Case#: Patient 4, Female, 10 days old at diagnosis, African American

DiseaseAssertion: Pompe disease

FamilyInfo:N/A

CasePresentingHPOs: HP:0009062, HP:0001638

(Infantile axial hypotonia, Cardiomyopathy)

CaseHPOFreeText: Before ERT patient withdraws extremities to stimulation, contractures of large joint of upper and lower extremities, weak grasp. Also patient was invasively ventilated. Baseline – G-tube feeds and continues

Currently patient is off ventilator 10-12 hours a day. Sits with support; and has minimal capacity for weight bearing on lower extremities. G tube feed.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: No GAA measurement

Variant 1: M_000152.5(GAA):c.525del (p.Glu176fs)

ClinVar: 4033

CAID: CA220406

gnomAD: N/A

Variant 2: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype:N/A

PreviouslyPublished:N/A

Case#: Patient 7, Female, diagnosed at 3 months old (died at 15 months old), African American

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638 (Cardiomyopathy)

CaseHPOFreeText: Previous to ERT patient did not required oxygen support. Patient needed Invasive ventilation at week 38 ERT until death 2 months later.

Previous to ERT and during it patient was unable to independently hold head or sit unsupported.

Previous to ERT NG tube feeds at age 3 months due to aspiration. During ERT patient used a GJ tube

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype:N/A

PreviouslyPublished: N/A

Case#: Patient 5, Female, 3.0 months old at diagnosis, African American

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0032988, HP:0001638

(Persistent head lag, Cardiomyopathy)

CaseHPOFreeText:

Previous to ERT patient was invasively ventilated, patient was unable to sit or roll over. NJ feeds started at age 3 months

Currently patient requires Oxygen and BiPAP at night. Stands with support and uses G tube for feeding.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: No GAA measurement

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype: N/A

PreviouslyPublished: N/A

Case#: Patient 3, Gender unknown, age unknown, ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0003756

(Cardiomyopathy, Skeletal myopathy)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Sequence analysis of the GAA gene was performed in a CLIA and CAP certified laboratory. Cross Reactive Immune reaction was indeterminate in peripheral blood mononuclear cells (PBMCs)

Cross Reactive Immune reaction was negative in Dried blood spots.

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)Cite this record

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype: N/A

PreviouslyPublished:N/A

Case#: Patient 4, Gender unknown, age unknown, ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0003756

(Cardiomyopathy, Skeletal myopathy)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Sequence analysis of the GAA gene was performed in a CLIA and CAP certified laboratory. Cross Reactive Immune reaction was indeterminate in peripheral blood mononuclear cells (PBMCs)

Cross Reactive Immune reaction was not available in Dried blood spots.

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID:CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype: N/A

Case#: P 10, Male, 7.0 months old when started ERT (Died at 21.1 months old)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0006532

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Recurrent pneumonia )

CaseHPOFreeText: Patient required tube feeding

Recurrent pneumonia was a complication during ERT

Patient did not achieved motor function

CaseNotHPOs: N/A

CaseNotHPOFreeText: Patient was not ventilated

CasePreviousTesting: CRIM status was unknown

Antibody titer was not available

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF = 0.001891 (African)

ParentalGenotype: Both the paternal and maternal allele carried the c.2560C>T (p.Arg854Ter) Variant

PreviouslyPublished: N/A

Case#: Subject number 11(L)

DiseaseAssertion: Late Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CK testing: 421 U/L (60-305 U/L is normal)

glucosidase activity: GAA activity (NBS) 0.63 in dried blood spots (>2.10 micromole/L/h is normal). 3.00 in confirmatory testing (>3.88 is normal).

Variant 1: NM_000152.5(GAA):c.-32-13T>G

Variant 1 ClinVarID: 4027

Variant 1 CAid: CA116606

Variant 2: NM_000152.5(GAA):c.2560C>T

Variant 2 ClinVarID: 4034

Variant 2 CAid: CA340130

Zygosity: compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A

Case#: Patient 5

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None

CaseHPOFreeText: None

CaseNotHPOs: None

CaseNotHPOFreeText: None

CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

Glucosidase activity: 0.0 nmol 5MU/hr/mL

Variant 1: NM_000152.5:c.2560C>T

Variant 1 ClinVarID: 4034

Variant 1 CAid: CA340130

Variant 2: NM_000152.5:c.2446G>A

Variant 2 ClinVarID: 92477

Variant 2 CAid: CA145772

ParentalGenotype: Not provided

Case#: Patient 7

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None

CaseHPOFreeText: None

CaseNotHPOs: None

CaseNotHPOFreeText: None

CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

Glucosidase activity: 0.05 nmol 5MU/hr/mL

Variant 1: NM_000152.5:c.2560C>T

Variant 1 ClinVarID: 4034

Variant 1 CAid: CA340130

Variant 2: NM_000152.5:c.596A>G

Variant 2 ClinVarID: 92486

Variant 2 CAid: CA145785

Variant 3: NM_000152.5:c.668G>A

Variant 3 ClinVarID: 92488

Variant 3 CAid: CA145791

ParentalGenotype: Not provided