Case#: Pedigree C, C.4, age 60, Male

DiseaseAssertion: Dilated Cardiomyopathy

FamilyInfo: Pedigree C, Fig. 2 and Table 2. The individual carried MYBPC3 P910T and TNNC1 D145E. A brother was affected with hypertrophic cardiomyopathy. A daughter, C.6, carried MYBPC3 P910T only and had normal cardiac screening at age 38.

CasePresentingHPOs: HP:0200128 HP:0001644

“Dilated cardiomyopathy; left ventricular dilation; severely reduced ejection fraction; left bundle branch block; first-degree atrioventricular block”

Genotyping Method: DNA was isolated from a peripheral blood sample of the patient and was screened for mutations by direct sequencing

Variant: NM_000256.3: c.2728C>A (p.Pro910Thr; P910T)

ClinVar: 42656

CAID: CA012881

Case#: Patient 10, Gender N/A, Onset at 1-2 months. Death at 10 months, Southeast Asian

DiseaseAssertion:Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639. HP:0005165, HP:0002100

(Dyspnea, Shortened PR interval, Recurrent aspiration pneumonia)

CaseHPOFreeText: BVH, SDD

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting GAA enzyme activity is not available.

PCR of all exons was performed and subsequently subjected to capillary Sanger sequencing in both directions

Variant: NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)

ClinVar: 637958

CAID: CA500127534

gnomAD: N/A

ParentalGenotype: Both parents are carriers of the variant c.876C>G (p.Tyr292Ter)

PreviouslyPublished: N/A

Case#: 43-year old man, German descent, onset within first decade of life

DiseaseAssertion: STGD1

FamilyInfo: Family pedigree shown in Figure 1.

CasePresentingHPOs: HP:0011463, HP:0000533, HP:0000580, HP:0030500, HP:0011507, HP:0000548, HP:0000510, HP:0007703, HP:0007663, HP:0000512, HP:0000610

CaseHPOFreeText: Retinal vessels were visibly attenuated.

CaseNotHPOs: n/a

CaseNotHPOFreeText: Peripapillary region around the optic nerve had no disease related changes.

Genotyping Method: Illumina MiSeq platform, Array-CGH analysis

PreviouslyPublished: n/a

Variant: NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr), NM_000350.3(ABCA4):c.4539+2028C>T

ClinVar: 99065, 236116

SupplementalData: n/a