GroupID: 9

DiseaseAssertion: Neuroendocrine neoplasm (pheochromocytoma or paraganglioma)

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: Ethnicity unknown

GroupAgeRange: N/A

GroupInfo: This mutation (p.R167W (c.499C>T)) was found in 3 patients, 2 with a family history and/or a syndromic presentation, and 1 patient with an apparently sporadic presentation.

GroupPresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

GroupHPOFreeText: Patients with a pheochromocytoma or a functional paraganglioma were recruited from several different French clinical centers participating in several clinical research networks (Cortico et Medullosurrènale: les Tumeurs Endocrines, Paragan-Glioma Network, Groupe des Tumeurs Endocrines)

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: RET, NF1, SDHB/SDHC/SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

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

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: 1 (case)

KindredID: 1

Case: F, 70Y0M, Ethnicity Unknown

DiseaseAssertion: NF1

FamilyInfo: Her son bearing the clinical characteristics of NF 1 died at the age of 17Y from an undefined malignancy. The patient has another son, 40 years old, who is clinically well.

CasePresentingHPOs: HP:0002666; HP:0000843; HP:0002865 (pheochromocytoma; hyperparathyroidism; medullary thyroid cancer)

CaseHPOFreeText: diagnosed with an isolated pheochromocytoma of the right adrenal gland underwent adrenalectomy) at 20Y. Further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. Patient was diagnosed with NF1 at 20Y with multiple café–au-lait spots on her back and lower limbs were identified. She also had multiple dermal neurofibromas on the abdomen and lower limbs. Her medical history included diabetes mellitus type II, as well as hypertension.

CaseNotHPOs: N/A

CaseNotHPOFreeText: MRI of the brain was performed at 20Y, which did not reveal any brain neurofibromas.

CasePreviousTesting: NF1, RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P192R (c.575C>G)

LegacyVariant: p.P192R (c.788C>G)

CaseProblemVariantFreeText: N/A

ClinVarID: 825946 https://www.ncbi.nlm.nih.gov/clinvar/variation/825946/

CAID: N/A

gnomAD: N/A

VariantEvidence: According to in silico analysis and clinical history of the patient, VHL was more likely a rare polymorphic variant of the population of patient’s origin, rather than a disease causing mutation.

MutationType: missense_variant;transversion

CivicName: P192R (c.575C>G)

MultipleGeneVariants: Germline, NF1, c.3516_3517delTC, p.D1172Dfs*21

PatientID: 18

KindredID: 18

Case: M, 34Y0M, Asian Indian

DiseaseAssertion: pheochromocytoma

FamilyInfo:  None - Apparently sporadic

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: bilateral pheochromocytoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

PreviouslyPublished: N/A

SupplementalData: N/A

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

CaseProblemVariantFreeText: N/A

LegacyVariant: 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