PatientID: VHL_9 (tumor ID)

KindredID: 9

Case: M, 17Y0M, Ethnicity Unknown

DiseaseAssertion: Adrenal pheochromocytoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 17Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161Q (c.482G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

PatientID: 150

KindredID: 55

Case: M, 17Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband (patient 150) has a father (patient 151) who was also confirmed with this germline mutation, and presented at 22 with a CNS hemangioblastoma and 28 with renal cell carcinoma. The proband also has a grandmother (patient 153) who presented with a CNS hemangioblastoma at 43, but who passed away before diagnosis/ genetic testing.

CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

CaseHPOFreeText: The proband presented at age 14 with a CNS hemangioblastoma, and age 17 with multiple pancretic cysts/tumors.

CaseNotHPOs: HP:0009711; HP:0002666; HP:0005584 (Retinal capillary hemangioma, Pheochromocytoma, Renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.I151S (c.452T>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223215, https://www.ncbi.nlm.nih.gov/clinvar/variation/223215/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: I151S (c.452T>G)

MultipleGeneVariants: N/A

PatientID: 250

KindredID: 96

Case: M, 23Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband (patient 250) presented with a CNS hemangioblastoma at 23, retinal angioma at 17, and multiple pancreatic cysts/tumors at 19. His mother (patient 251) presented with a CNS hemangioblastoma at age 43, retinal angioma at 35, renal cell carcinoma/multiple pancreatic cysts/tumors at 44.

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0001732 (Hemangioblastoma, Retinal capillary hemangioma, Pancreatic cysts, Abnormality of the pancreas)

CaseHPOFreeText: The proband (patient 250) presented with a CNS hemangioblastoma at 23, retinal angioma at 17, and multiple pancreatic cysts/tumors at 19.

CaseNotHPOs: HP:0002666; HP:0005584 (Pheochromocytoma, Renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: Exon 1 Deletion (c.1-?_340+?del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: exon_loss_variant

CivicName: Exon 1 Deletion

MultipleGeneVariants: N/A

PatientID: 43

KindredID: 15

Case: F , 21Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Proband (patient 42) has four family members confirmed with the mutation, and two family members who passed away before diagnosis/ genetic confirmation of the mutation. Family members confirmed with the mutation include: the proband's daughter (patient 43) who had retinal angioma (age 17), renal cell carcinoma (21), multiple pancreatic cysts/tumors (18), and a pheochromocytoma (19). His son (patient 44) who was asymptomatic at the time of assessment. His niece 1 (patient 47) who had a retinal angioma and renal cell carcinoma (22). And his niece 2 (patient 28) who had a CNS hemangioblastoma (19) and a retinal angioma (18). Family members who passed away before diagnosis and were not genetically confirmed include: his sister (oatient 45) who had a CNS hemangioblastoma (22), and his brother (patient 46) who had a retinal angioma and renal cell carcinoma at 52.

CasePresentingHPOs: HP:0001737; HP:0001732; HP:0005584; HP:0002666; HP:0009711 (Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma, Pheochromocytoma, Retinal capillary hemangioma)

CaseHPOFreeText: The proband's daughter (patient 43) presented with retinal angioma at 17, multiple pancreatic cysts/tumors at 18, pheochromocytoma at 19, and renal cell carcinoma at 21.

CaseNotHPOs: HP:0010797 (Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.S80Tfs*77 (c.239_245del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA913189246; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.239_245del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: S80fs (c.239_245del)

MultipleGeneVariants: N/A

PatientID: II

KindredID: 5

Case: Sex Unknown, 20Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: 2 family members with the same VHL variant. Patient 5-I presented with retinal hemangioblastoma (17Y). Patient 5-III presented with retinal hemangioblastoma (12Y), pancreatic cysts (12Y), CNS hemangioblastoma (15Y) and kidney disease (12Y).

CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts)

CaseHPOFreeText: Diagnosed with VHL at age 3Y. Presented with 13 CNS hemangioblastomas (11Y, 13Y, 15Y and 17Y), retinal hemangioblastoma (13Y) and 2 pancreatic cysts (16Y). Age at the end of study: 20Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q145* (c.433C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625249, https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition; stop_gained

CivicName: Q145* (c.433C>T)

MultipleGeneVariants: N/A

PatientID: I

KindredID: 13

Case: Sex Unknown, 48Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797, HP:0001737, HP:0009711 (hemangioblastoma, pancreatic cysts, retinal capillary hemangioma)

CaseHPOFreeText: The patient was diagnosed with VHL at age 13. The patient had 8 retinal hemangioblastomas at ages 13, 16,17,18. The patient had 1 pancreatic cyst at age 17 and one CNS hemangioblastoma at age 17. The patient died at age 48.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 19863552, 25834951, 27966541, 27539272

SupplementalData: N/A

Variant: p.S65W(c.194C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName:S65W(c.194C>G)

MultipleGeneVariants: N/A

PatientID: Proband 3

KindredID: 1

Case: M, 17Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The family with PCCs includes 56 members of 4 generations, and is from Gansu Province. Among them, 7 extended over 3 generations were diagnosed as PCCs. One died before admission and another died due to a cardiovascular incident. Five were initially evaluated; evaluation included medical history, physical examination, abdominal ultrasonography, CT or MRI and laboratory tests. All 5 probands of this family underwent surgical resection. The tumors were benign under pathological examinations. There were no recurrence and malignant transformation over the period of up to 23-year follow-up. Twenty members, including 5 live patients and 15 direct relatives, accepted genetic examination.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: Bilateral PCC diagnosed at 17Y and did not have any other clinical presentations. Stated as having VHL type IIC.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.H125P (c.374A>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223201, https://www.ncbi.nlm.nih.gov/clinvar/variation/223201/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: H125P (c.374A>C)

MultipleGeneVariants: N/A

PatientID: III:6

KindredID: 1

Case: M, 18Y, Spanish

DiseaseAssertion: VHL

FamilyInfo: Spanish family of 15 members studied, over 2 generations. 6 members had VHL presentations, 1 was a carrier, and 4 others had the mutation, while 2 were not sequenced. This patient’s sister had passed at 18Y with pheochromocytoma, his other sister presented with the same mutation. His father, aunt and two cousins all showed positive for the familial mutation.

CasePresentingHPOs: HP:0006748; HP:0009711; HP:0006880 (adrenal pheochromocytoma; retinal capillary hemangioma, cerebellar hemangioblastoma)

CaseHPOFreeText: at 16Y, he presented and had removed with bilateral adrenal pheochromocytoma (right: 2.7cm; left 4.7cm) with signs and symptoms of intracranial hypertension. At 17Y, brain CT and MRI were abnormal, showing cerebellar tumors (hemangioblastoma). Retinal angiomas were also displayed in this patient.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167W (c.499C>T)

LegacyVariant: p.R238T, C>T

CaseProblemVariantFreeText: N/A

ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

CAID: N/A

gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

PatientID: N/A

KindredID: 3

Case: Sex Unknown, 17Y0M, Ethnicity Unknown

DiseaseAssertion: Renal Cyst

FamilyInfo: This patient (a relative of patient B3) had two first degree relatives who were positive for the VHL mutation. The first family member (patient B3) had a cerebellar hemangioblastoma at 40 and a pheochromocytoma at 41 years old and the second family member had a hemangioblastoma and retinal angioma at 18 years old

CasePresentingHPOs: HP:0000107 (renal cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167Q (c.500G>A)

LegacyVariant: p.R167Q (c.713G>A)

ClinVarID: 2216 (https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/)

CAID: N/A

gnomad: 0.000003977 (https://gnomad.broadinstitute.org/variant/3-10191507-G-A)

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R167Q (c.500G>A)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 1

Case: M, 17Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: None

CohortInfo: Eight patients whose pheochromocytomas were suggestive of VHL but were negative for a VHL abnormality both by PCR-Sanger sequencing and by quantitative multiplex PCR of short fluorescent fragments (QMPSF).

CasePresentingHPOs: HP:0010797, HP:0002666, HP:0030405, HP:0006748 (Hemangioblastoma, Pheochromocytoma, Pancreatic endocrine tumor, adrenal pheochromocytoma)

CaseHPOFreeText: Patient developed hemangioblastoma at age 16. At age 17 he developed right pheochromocytoma, pancreatic endocrine tumour, and a small left adrenal nodule later stated to be an adrenal pheochromocytoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient is believed to be the same as a patient published in 30731206. That paper offers more updated information on this patient.

SupplementalData: N/A

Variant: p.R167Q (c.500G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

CAID: N/A

gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

VariantEvidence: The patient had a mosaic mutation with a mutated allele frequency of 5.7%.

MutationType: missense_variant;transition

CivicName: R167Q (c.500 G >A)

MultipleGeneVariants: N/A

PatientID: I

KindredID: 10

Case: Sex Unknown, 37Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0001737, HP:0009711, HP:0009715 (pancreatic cysts, retinal capillary hemangioma, Papillary cystadenoma of the epididymis)

CaseHPOFreeText: The patient was diagnosed with VHL at age 15 and presented with two pheochromocytomas. At age 17, the patient presented with a retinal capillary hemangioma and an epididymal cystadenoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 19863552, 25834951, 27966541, 27539272

SupplementalData: N/A

Variant: p.R113* (c.337C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType:stop_gained

CivicName: R113* (c.337C>T)

MultipleGeneVariants: N/A

PatientID: I

KindredID: 5

Case: Sex Unknown, 28Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: 2 family members with the same VHL variant. Patient 5-II presented with 13 CNS hemangioblastomas (11Y, 13Y, 15Y and 17Y), retinal hemangioblastoma (13Y) and 2 pancreatic cysts (16Y). Patient 5-III presented with retinal hemangioblastoma (12Y), pancreatic cysts (12Y), CNS hemangioblastoma (15Y) and kidney disease (12Y).

CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

CaseHPOFreeText: Diagnosed with VHL at age 0Y. Presented with retinal hemangioblastoma at 17Y. Age at the end of study: 28Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q145* (c.433C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625249, https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition; stop_gained

CivicName: Q145* (c.433C>T)

MultipleGeneVariants: N/A

PatientID: 15

KindredID: 1

Case: F, 17Y0M, Spanish

DiseaseAssertion: VHL

FamilyInfo: None

CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

CasePresentingHPOs: HP:0002666, HP:0002668 (pheochromocytoma, paraganglioma)

CaseHPOFreeText: The patient was admitted due to hypertension and secondary diabetes mellitus. She was found to have a norepinephrine secreting bilateral pheochromocytoma at age 15 and a thoracic-abdominal paraganglioma at age 17.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX

PreviouslyPublished: Yes source unknown.

SupplementalData: N/A

Variant: p.P95R (c.284C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351750809 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.284C%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P95R (c.284C>G)

MultipleGeneVariants: N/A

PatientID: 2

KindredID: 2

Case: F, 38Y0M, German

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo:All patients from the German registry for VHL with PNETs >3 cm diameter with tumours located in the pancreatic body or tail region.

CasePresentingHPOs: HP:0009711, HP:0009713, HP:0006880, HP:0009726, HP:0030405, HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm, pancreatic endocrine tumour, pancreatic cysts)

CaseHPOFreeText: Retinal angiomatosis at age 17, hemangioblastoma of the cervical spinal cord at age 24, cerebellar hemangioblastoma at age 27, left renal tumor at age 36. Pancreatic endocrine tumour and pancreatic cysts at age 38. She had a laparoscopy which found an 8-cm retrogastric cyst, 3.2-cm benign PNET, and a serous cystadenoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q132* (c.394C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: Q132* (c.394C>T)

MultipleGeneVariants: N/A

PatientID: III-1

KindredID: 1

Case: M, 17Y0M, Chinese (East Asian)

DiseaseAssertion: assumed VHL

FamilyInfo: A total of 9 of family members (4 male; 5 female) in a 3 generation family were associated with VHL at the splice mutation: c.464-1G>C. 5 members underwent cerebellar HB lesion resections, including his mother, aunt and uncle, and 1 member had RCC. (See Fig 4).

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: He had his first operation for HB at 17Y. No further details were discussed.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: c.464-1G>C

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223220 https://www.ncbi.nlm.nih.gov/clinvar/variation/223220

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: splice_site_variant

CivicName: Splice Site (c.464-1G>C)

MultipleGeneVariants: N/A

PatientID: None

KindredID: VHL11

Case: M, 17Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: The patient had one benign pheochromocytoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/SDHB/SDHC/SDHD

PreviouslyPublished: N/A

SupplementalData: Table 1 of Supplementary

Variant: p.Y156C (c.467A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 43600, https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/

CAID: N/A

gnomAD: N/A

VariantEvidence: The patient had LOH found in the BAC array CGH data.

MutationType: missense_variant;transition

CivicName: Y156C (c.467A>G)

MultipleGeneVariants: N/A

PatientID: 2

KindredID: 19

Case: F, 33Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Positive. The patient's son was the proband (1) and carried the mutation but was asymptomatic. The proband's uncle (7) carried the mutation and presented with symptoms. The proband's cousin (9) and first cousin once removed (22) were also found to have the mutation but were asymptomatic.

CohortInfo: 20 unrelated VHL families from an ethnically diverse cohort containing both affected and unaffected individuals.

CasePresentingHPOs:HP:0010797, HP:0005584, HP:0001732, HP:0000077 (hemangioblastoma, renal cell carcinoma, abnormality of the pancreas, abnormality of the kidney)

CaseHPOFreeText: The patient presented with a hemangioblastoma at ages 17, 24, 30. At age 25 she presented with renal cell carcinoma and abnormalities of the kidney and pancreas.

CaseNotHPOs: HP:0009711, HP:0002666 (retinal capillary hemangioma, pheochromocytoma )

CaseNotHPOFreeText: The patient did not have epididymal or ovarian cysts.

CasePreviousTesting: N/A

PreviouslyPublished: 31368132

SupplementalData: Supplementary file 1.

Variant: p.W88* (c.263G>A)

LegacyVariant: p.W88* (c.476G>A)

CaseProblemVariantFreeText: N/A

ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: W88* (c.263G>A)

MultipleGeneVariants: N/A

PatientID: 88 (Second cousin)

KindredID: 18

Case: F, 52Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: 11 members of this family tested positive for the c.712C>T/c.499C>T germline variant of the VHL gene. 14 members of this family were assumed to carry this variant due to family history/personal medical history. Members of this family range from asymptomatic to multi-organ involvement (pheochromocytoma, pancreatic and renal cysts/tumors and hemangioblastomas). The family was previously reported in PMID 3942913.

CasePresentingHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, Pheochromocytoma)

CaseHPOFreeText: This patient presented with CNS hemangioblastoma (18Y) and pheochromocytoma (17Y).

CaseNotHPOs: HP:0005584; HP:0000077; HP:0001732; HP:0009711 (Renal cell carcinoma, Abnormality of the kidney, Abnormality of the pancreas, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 3942913 (some members of this family are previously reported (phenotypes only) but unable to match patients across papers with confidence)

SupplementalData: Supplementary Table 1.

Variant: N/A

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: Authors state that the c.712C>T germline familial variant of the VHL gene in this patient is “inferred from the family”. No genetic testing was done on this patient to confirm this. Being that this familial variant is out of bound with respect to the NM_000551.3 reference sequence, it was concluded that this variant is noted in the Latif et al. (1993) reference and was translated to c.499C>T (NM_000551.3).

MutationType: N/A

CivicName: N/A

MultipleGeneVariants: N/A

PatientID: None

KindredID: 1

Case: F, 45Y0M, Japanese

DiseaseAssertion: VHL

FamilyInfo: No evidence of a family history of VHL.

CasePresentingHPOs: HP:0001737; HP:0030405; HP:0006880; HP:0006748; HP:0009711; HP:0001732; HP:0002896 (Pancreatic cysts, Pancreatic endocrine tumor, Cerebellar hemangioblastoma, Adrenal pheochromocytoma, Retinal capillary hemangioma, Abnormality of the pancreas, Neoplasm of the liver)

CaseHPOFreeText: The proband had a cerebellar hemangioblastoma resected at age 17, retinal hemangioblastoma surgery at age 26, and an adrenalectomy for pheochromocytoma at age 30. An abdominal CT revealed a 4cm abdominal mass and diffuse pancreatic cystic lesions, diagnosed as pancreatic neuroendocrine tumor.

CaseNotHPOs: N/A

CaseNotHPOFreeText:

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q132* (c.394C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 288749, (https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/)

CAID: CA10606205 (http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10606205)

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: Q132* (c.394C>T)

MultipleGeneVariants: N/A

PatientID: 163

KindredID: 63

Case: F, 37Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband (patient 163) had a brother and niece who were both confirmed with the mutation. The brother (patient 164) had a CNS hemangioblastoma at 27, retinal angioma at 26, and pheochromocytoma at 8 years old. The niece (patient 165) was asymptomatic at the time of analysis. The proband also had a mother (patient 166) who had multiple pancreatic cysts/tumors and a pheochromocytoma at age 56, but for whom no DNA sample was available for analysis.

CasePresentingHPOs: HP:0001737; HP:0001732; HP:0010797; HP:0002666; HP:0005584 (Pancreatic cysts, Abnormality of the pancreas, Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma)

CaseHPOFreeText: The proband presented with a pheochromocytoma at 37, and at age 37 presented with a CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors.

CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.R161Q (c.482G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/?new_evidence=true

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

PatientID: None

KindredID: A

Case: F, 17Y0M, Welsh

DiseaseAssertion: Pheochromocytoma

FamilyInfo: The patient had a brother that presented with bilateral pheochromocytoma at 11Y. The patient also had an asymptomatic parent.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 17Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V84L(c.250G>T)

LegacyVariant: p.V155L(c.463G>T)

CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: V84L(c.250G>T)

MultipleGeneVariants: N/A

PatientID: 23

KindredID: 16

Case: Sex Unknown, 17Y0M, Brazilian (Latino/Admixed American)

DiseaseAssertion: VHL

FamilyInfo: None

CasePresentingHPOs: HP:0030405; HP:0010797; HP:0001737; HP:0009711 (pancreatic endocrine tumor, hemangioblastoma, pancreatic cyst, retinal capillary hemangioma)

CaseHPOFreeText: The patient developed a 2.2 cm PNET at age 17. Patient was also recorded with all of the above manifestations

CaseNotHPOs: HP:0002668, HP:0002666; HP:0005584; HP:0000107 (Paraganglioma, pheochromocytoma, renal cell carcinoma, renal cyst)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P86T (256C>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA351750624 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.256C%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P25L (c.74C>T) and P86T (c.256C>A)

MultipleGeneVariants: Germline, VHL, c.74C>T (p.Pro25Leu)

PatientID: N/A (case)

KindredID: 1

Case: F, 18Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Not relevant - She was the first child of consanguineous parents. Her family history was notable for type 2 diabetes and dyslipidemia but no history of pheochromocytoma, paraganglioma, unexplained sudden death, or condition relevant to VHL. However, the family screening for VHL has not been performed.

CasePresentingHPOs: HP:0006748; HP:0000819; HP:0008200 (adrenal pheochromocytoma; Diabetes mellitus; hyperparathyroidism)

CaseHPOFreeText: First brought to clinic for newly diagnosed diabetes mellitus and severe arterial hypertension. As symptoms, the patient complained of headaches, palpitations, diaphoresis, and hot flashes since one month. She reported also asthenia and body weight loss of five kilograms in two weeks. Pheochromocytoma was confirmed. CT showed adrenal masses: Right measuring 35×55×70mm, and left measuring 24×27mm. She underwent a bilateral adrenalectomy in two steps. Pathological examination confirmed bilateral adrenal pheochromocytomas. 12 months post, follow up is clear.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Thyroid, abdominal, and neurological examinations were normal.

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R64P (c.191G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2226 https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R64P (c.191G>C)

MultipleGeneVariants: N/A

PatientID: 5

KindredID: 7

Case: M, 17Y0M, Spanish

DiseaseAssertion: VHL

FamilyInfo: No family history, assumed de-novo, but unclear if parents were tested to confirm de-novo assertion.

CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: The patient had a benign bilateral pheochromocytoma that was secreting norepinephrine at age 10. At age 17, the pheochromocytoma reoccured but this time was malignant and metastasized to the lungs.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX

PreviouslyPublished: Yes source unknown.

SupplementalData: N/A

Variant: p.R167W (c.499C>T) *The authors of this paper have seemingly called the wrong protein change for this variant.

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

CAID: N/A

gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

PatientID: None

KindredID: 1

Case: F, 17Y0M, Ethnicity Unknown

DiseaseAssertion: Retinal hemangioblastoma

FamilyInfo: The heterozygous missense variant NM_000551.3:c.311G>T was identified on her 21-year-old sister and her mother, but not her father. The sister had hypertension and a paraganglioma. The patient’s mother had refused a complete staging.

CasePresentingHPOs:HP:0009711 (Retinal hemangioblastoma)

CaseHPOFreeText: The patient’s evaluation was normal with the exception of a small retinal hemangioblastoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G104V(c.311G>T)

LegacyVariant: N/A

ClinVarID: 223183, http://www.ncbi.nlm.nih.gov/clinvar/variation/223183

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: G104V(c.311G>T)

MultipleGeneVariants: N/A

PatientID: I

KindredID: 12

Case: Sex Unknown, 21Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts)

CaseHPOFreeText: Diagnosed with VHL at age 5Y. Presented with 5 retinal hemangioblastoma (5Y, 13Y, 14Y) 6 CNS hemangioblastoma (15Y, 17Y) 3 pancreatic cysts (15Y). Age at the end of study: 21Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: Exon 1-2 Deletion (c.1-?_463+?del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: exon_loss_variant

CivicName: Exon 1-2 Deletion

MultipleGeneVariants: N/A

PatientID: 19

KindredID: 1

Case: F, 17Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: This patient was a member of family 1, where 14/32 total patients were diagnosed with VHL. One of which (I-32) was a mutational carrier with down syndrome. The other 13 patients had varying phenotypes, including adrenal pheochromocytoma, pancreatic endocrine tumors, liver and bone metastases, paraganglioma, cerebellar, spinal, and retinal hemangioblastomas, polycythemia, and chondrosarcoma. See Fig. 1 for family pedigree.

CasePresentingHPOs: HP:0006748; HP:0030405 (adrenal pheochromocytoma; pancreatic endocrine tumor)

CaseHPOFreeText: Patient presented with his initial VHL-related clinical manifestations at 17Y0M. She had adrenal pheochromocytoma and pancreatic endocrine tumor. She was diagnosed with VHL subtype 2A at age 18Y0M (see table 1).

CaseNotHPOs: HP:0002668 (paraganglioma)

CaseNotHPOFreeText: Patient does not have paraganglioma.

CasePreviousTesting: N/A

PreviouslyPublished: 8550742

SupplementalData: N/A

Variant: p.V166F (c.496G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: V166F (c.496G>T)

MultipleGeneVariants: N/A

Case#: Female, age 44 years old

DiseaseAssertion: Discordant STGD phenotype

FamilyInfo: Information revolving the sister of this patient is given as well as they both have a discordant STGD phenotype. Additionally, it mentions that the parents each harboured a mutation but were asymptomatic/had normal examination results.

CasePresentingHPOs: HP:0001141, HP:0007401, HP:0030602

CaseHPOFreeText: At 23 central vision was deteriorating and patient had a VA of 6/36 in the right eye and 6/60 in the left. Through fundus photography, bilateral yellow/white flecks were found at the posterior pole. 12 years later, her VA was retested and it was 6/60 in both eyes. After autofluorescnece (AF) imaging was done, there was localized low signal at the macula found with abnromal foci. In 2008 her macular atrophy had enlarged and the flecks were less apparent.

CaseNotHPOs: N/a

CaseNotHPOFreeText: In this article there was not a phenotype presented that was normal.

CasePreviousTesting: It mentioned that there were two previously reported variants on the same allele detected in the siblings and one unique novel variant on the second allele for this patient. However, the testing they used was not listed, it just stated that the variants were found through sequencing. For this patient the variants were p.L541P/p.A1038V and p.R881C.

GenotypingMethod: Just mentioned sequencing and ABCA4 screening to look for two variants p.L541V and p.A1038V and a third novel variant p.R881C.

PreviouslyPublished: N/a

Variant: 1) NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) 2) NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) 3) N/a

ClinVar ID: 1) 99067 2) 7894 3) N/a

**CAID: ** 3) Because there was not a reference or alternate allele provided in this article I was unable to find a CAID for p.R881C.

gnomAD: 1) Highest minor allele frequency was 0.00017 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99067/) 2) Highest minor allele frequency was 0.00188 (https://www.ncbi.nlm.nih.gov/clinvar/variation/7894/) 3) N/a

SupplementalData: Figure 1 had information regarding imaging and other testing done on the patient that is vital for phenotypic characterization. Also, it mentions a variant known as p.R881C, but was unable to find anything on ClinVar or gnomAD.

人口模型已扩展到17个国家，且各国间的嵌入具有可比性，这表明模型具有全球适用性和跨文化一致性，是重要的技术突破。

The Gospel of Wealth<br /> https://en.wikipedia.org/wiki/The_Gospel_of_Wealth

https://en.wikipedia.org/wiki/Henry_Clay_Frick

It’s interesting how jealousy makes the crew completely forget Odysseus actually saved them.

Hayek, F. A. The Road to Serfdom: Text and Documents, The Definitive Edition. Edited by Bruce Caldwell. 1944. Reprint, University of Chicago Press, 2010.

https://www.reddit.com/r/typewriters/comments/1l2ayq1/any_font_smaller_than_elite/

Plutocrats Meeting #5 by [[Dan Allosso]]

https://en.wikipedia.org/wiki/Batya_Ungar-Sargon

dumbing down of rhetoric on the left versus the right (source?)

The Californian Ideology by [[Richard Barbrook]], and [[Andy Cameron]] on 1 September 1995

https://www.streetdirectory.com/lyricadvisor/song/wewuul/whitey_on_the_moon/

"Among the blacks of Africa I have also seen some very beautiful women who did not have thick lips and snub noses...they had an 'aquiline nose, small mouth, coral lips, ivory teeth, large bright eyes, gentle features and a bosom and everything else of utter perfection.'" p. 17

Their beauty for white male mariners and merchants was predicated on having non-traditional African features and instead a proximity to white-European features (i.e. similar to the Goddess Venus).

https://www.liberation.fr/environnement/climat/laddiction-suicidaire-de-lhumanite-aux-energies-fossiles-20230217_Q2Q6LHSOQFAIPEFHR5EPBFEBSI/

Die Vorsitzende der englischen konservativen Kemi Badenoch verzichtet heute in einer Rede auf das Net Zero-Ziel für 2050. Dieses Ziel wurde 2019 unter einer konservativen Regierung gesetzlich festgeschrieben. https://www.theguardian.com/environment/2025/mar/17/conservative-party-to-ditch-commitment-to-net-zero-in-uk-by-2050

https://www.repubblica.it/economia/2025/03/17/news/geopolitica_e_energia_tre_aree_cruciali_dove_l_italia_puo_contare-424056989/

https://www.kleinezeitung.at/wirtschaft/19479702/borouge-plant-aktienrueckkauf-nach-kursrueckgang-wegen-fusionsdeals

https://www.theguardian.com/environment/2009/apr/17/obama-administration-emissions-warning

Though use make you apt to kill me, Let not to that, self-murder added be, And sacrilege, three sins in killing three.

In line 16 and 17, the speaker essentially tells the listener that if they were to kill the flea, it would be a ot only self-murder, but the murder of three lives: their own, the speaker's, and the flea's. In line 18, the speaker places the flea on this holy pedestal, treating it as if it were sacred . By doing this, he makes it seem as though killing it would be a greater offense than it really is.

Nach den Erfahrungen mit den Angriffen der ersten Trump-Administration auf die Wissenschaft haben Wissenschaftler:innen in den USA verschiedene Maßnahmen zum Schutz wissenschaftlicher Institutionen ergriffen. Die New York TImes berichtet ausführlich über diese scientific integrity policies, die wissenschaftliche Arbeit öffentlich beobachtbar machen, aber politische Einflussnahme ausschließen sollen. Die Biden- und schon die Obama-Administration haben scientific integrity policies gefördert. Zu den Maßnahmen gehören die Benennung von Verantwortlichen für wissenschaftliche Integrität in Behörden und Kollektivverträge, die die Disziplinierung von Forschenden erschweren.

Zum „War on Science“ schon der ersten Trump-Regierung gehörte außer Entlassungen von Wissenschaftler:innen auch die Anordnung der Verfälschung von Forschungsergebnissen. https://www.nytimes.com/2025/01/17/climate/trump-government-scientists.html

Die von der neuen FPÖ/ÖVP-Koalition vorgesehenen Sparmaßnahmen betreffen fast alle direkt oder indirekt die Klima- und Umweltpolitik. Die ökologische Transformation wird, gebremst, Kosten werden vor allem durch die Abschaffung des Klimabonus von unten nach oben verteilt. https://www.derstandard.at/story/3000000253203/wer-zahlt-drauf-und-geht-sich-das-aus-fuenf-erkenntnisse-aus-dem-blau-schwarzen-sparpaket

https://www.derstandard.at/story/3000000253000/muell-und-windmuehlen-der-schande-wie-rechte-gegen-die-windkraft-kaempfen

for - definition - planetarization (of human culture) - SOURCE - article - Substack - The three civilizational priorities of the next societal transition - Michel Bauwens - 2025, Jan 17

for - world civilization - SOURCE - article - Substack - The three civilizational priorities of the next societal transition - Michel Bauwens - 2025, Jan 17

for - Clash of civilisations - Felix Koneczny predated Samuel Huntingon - SOURCE - article - Substack - The three civilizational priorities of the next societal transition - Michel Bauwens - 2025, Jan 17

for - definition - creative minorities - Arnold Toynbee, author of The Study of History - groups capable of inspiring action among the larger, less-educated, and less-visionary masses - SOURCE - article - Substack - The three civilizational priorities of the next societal transition - Michel Bauwens - 2025, Jan 17

for - comparison - axioms of mathematics - religious axioms for society - SOURCE - article - Substack - The three civilizational priorities of the next societal transition - Michel Bauwens - 2025, Jan 17

for - article - Substack - The three civilizational priorities of the next societal transition - Michel Bauwens - 2025, Jan 17

Met Office-Analyse: https://www.metoffice.gov.uk/research/climate/seasonal-to-decadal/long-range/forecasts/co2-forecast-for-2025

https://www.theguardian.com/us-news/2025/jan/17/trump-climate-change-la-fires

Eine neue Studie erhebt systematisch, wieviel weniger Frosttage es in den Ländern und Städten der Nordhalbkugel 2014-2023 aufgrund der globalen Erhitzung gab. Österreich hat inzwischen 13, Wien 22 Frosttage weniger als in einer Welt ohne fossile Emissionen. Diese Veränderungen haben gravierende Folgen für die Ökosysteme, die Verbreitung von Krankheiten, den Tourimus und das Lebensgefühl. https://www.derstandard.at/story/3000000249512/der-klimawandel-kostete-wien-22-frosttage-im-winter

Ausfühlicher Überblicksartikel zur Begrünung von Dächern mit einem Schwerpunkt auf Entwicklungen in Wien. Flache Dächer auf neuen Gebäuden müssen in Wien begrünt sein; die Begrünung wird von der Stadt gefördert. Die Begrünung hat auch positive Auswirkungen auf die Biodiversität. Als exemplarisches Projekt wird die Biotope City am Wienerberg genannt. https://www.derstandard.at/story/3000000247676/laut-fachleuten-braucht-es-mehr-gruen-auf-unseren-daechern

for - stats - carbon emissions reduction during covid - decarbonization rate - 17% in early April 2020 and 8.6% average between Jan and Apr 2020 compared to same period in 2019

Tell us more! Who was Benjamin Franklin, and what was he doing during this time period?

Cite your source(s)!

KMC vs. KMM by [[Richard Polt]]

Die von Waldbränden außerhalb der Tropen verursachten Emissionen haben sich seit 2001 fast verdreifacht. Weltweit haben die Emissionen durch Waldbrände in dieser Zeit um 60% zugenommen. Ursache dafür ist die Kombination von heißerem und trockenerem Wetter mit dem schnelleren Wachstum der Wälder durch die höheren Temperaturen. Die Wälder können durch die Brände jahrzehntelang zu Emittenten werden. Damit ist die Funktion der Wälder als Kohlenstoffsenken gefährdet. Das bedeutet auch, dass sie andere anthropogene Emissionen weniger kompensieren und die Fähigkeit verlieren, nach einem Überschreiten der 1,5°-Grenze C0₂ aus der Atmosphäre zu entfernen. Außerdem müssten diese von Menschen verursachten Emissonen den C0₂-Budgets der Nationalstaaten zugeordnet werden.

https://theconversation.com/forest-fires-are-shifting-north-and-intensifying-heres-what-that-means-for-the-planet-241337

DOI: 10.1128/MCB.00195-17

Resource: Bloomington Drosophila Stock Center (RRID:SCR_006457)

Curator: @maulamb

SciCrunch record: RRID:SCR_006457

What is this?

Governor Newsom urges schools to immediately restrict cell phones in the classroom ahead of the new school year | Governor of California

https://en.wikipedia.org/wiki/Matthew_effect

The Matthew effect of accumulated advantage, sometimes called the Matthew principle, is the tendency of individuals to accrue social or economic success in proportion to their initial level of popularity, friends, and wealth. It is sometimes summarized by the adage or platitude "the rich get richer and the poor get poorer". The term was coined by sociologists Robert K. Merton and Harriet Zuckerman in 1968 and takes its name from the Parable of the Talents in the biblical Gospel of Matthew.

related somehow to the [[Lindy effect]]?

https://docs.google.com/forms/d/e/1FAIpQLSeR5VrXxDJA3sJtkWDAKLH1TT0havDxmCf9PYAupxECu1BQYw/viewform

G0v

The g0v movement, or g0v, (pronounced gov-zero /ɡʌvziroʊ/) is an open source, open government collaboration started by Chia-liang Kao ("clkao"), ipa, kirby and others in late 2012 in Taiwan.

The Computational Democracy Project

We bring data science to deliberative democracy, so that governance may better reflect the multidimensionality of the public's will.

Polis<br /> https://pol.is/home

Fellowship of the Link: 2024-07-17

https://www.reddit.com/r/movies/comments/kzc5o3/are_gene_hackman_characters_in_the_conversation/<br /> Are Gene Hackman characters in The Conversation (1974) and Enemy of the State (1998 ) connected?

I want to circle back to this as I've had this idea since I saw Enemy of the State as a rough cut.

https://moshi.chat/

Moshi is an experimental conversational AI.

Das globale Durchschnittseinkommen wird bei der jetzt zu erwartenden globalen Erhitzung 2050 fast um ein Fünttel niedriger sein als ohne Erhitzung. Die (nicht mehr zu vermeidenden) Einbußen durch die Erhitzung bis 2050 sind sechsmal so hoch wie die einer Begrenzung des Temperaturanstiegs auf 2°. 2050 ist einer neuen Studie zufolge mit Klimaschäden von etwa 38 Bllionen Dollar zu rechnen. Bis 2100 wird es in einem Business-as-usual-Szenario zu Einkommensverlusten von mehr als 60% kommen. https://www.theguardian.com/environment/2024/apr/17/climate-crisis-average-world-incomes-to-drop-by-nearly-a-fifth-by-2050

2021 haben sich viele, vor allem britische, Banken zu sogenannten Glasgow Financial Alliance for Net Zero (GFANZ) zusammengeschlossen. Ein Bericht der Organisation Reclaim Finance weist nach, dass über 50 von ihnen weiterhin massiv Investitionen in fossile Energien finanziert haben.

Report: https://reclaimfinance.org/site/wp-content/uploads/2023/01/Throwing-fuel-on-the-fire-GFANZ-financing-of-fossil-fuel-expansion.pdf

Der Artikel im Guardian stellt eine neue Studie dar, aus der hervorgeht, wie viel von der bereits existierenden Infrastruktur zur Förderung fossiler Brennstoff stillgelegt werden muss, um das 1,5° Ziel zu erreichen. Dabei geht die Autoren davon aus, dass man CO2 nicht realistisch wieder aus der Atmosphäre entfernen kann, und dass das 1,5° Ziel also nur zu erreichen ist, wenn nicht zu viel emittiert wird. Diese Studie fordert das Gegenteil der Planungen der fossilen Industrien, über der über die der Guardian gerade berichtet hatte. Der Artikel ist auch bemerkenswert, weil er auf eine Reihe weiterer wichtiger Studien zu fossilen Lagerstätten verweist.

Im Februar setzen sich die Messungen von Rekordtemperaturen fort. Dabei stellt seit über einem halben Jahri die Zahl dieser Meldungen selbst bisherige Rekorde ein. In den ersten beiden Wochen wurden an 140 Stellen der Erde die höchsten Monats-temperaturen der Aufzeichnunggsgeschicht festgestellt. Noch beunruhigender sind die Anomaliee bei den Meerestemperaturen. Guardian-Artikel mit SInfografiken und tatements von Klimawissenschaftler:innen, die von dieser Entwicklung alarmiert sind. https://www.theguardian.com/environment/2024/feb/17/february-on-course-to-break-unprecedented-number-of-heat-records

It's Intro to Networking 1B (0.5)

https://www.derstandard.at/story/3000000215674/kosten-des-klimawandels-sechsmal-so-hoch-wie-kosten-zur-bekaempfung

In Norditalien setzt sich die Dürre-Situation des vergangenen Jahres fort, weil - wie in Frankreich - im Winter lange kein Regen gefallen ist. Der Wasserstand des Po ist extrem niedrig. Maßnahmen zur Kontrolle des Wasserverbrauchs sind unter der Rechtsregierung noch schwieriger durchzusetzen als in der Regierungszeit Draghis.