Case#: LOPD patient #1, Male, 69, ethnicity unknown.

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0002094, HP:0006554, HP:0012378, HP:0001324 (Dyspnea, Acute respiratory failure, Fatigue, Lower Girdle Muscle Weakness and Upper Girdle Muscle Weakness)

CaseHPOFreeText: Dyspnea was present during exercise, not at rest. Lower Girdle Muscle Weakness and Upper Girdle Muscle Weakness share the same HPO.

CaseNotHPOs:

CaseNotHPOFreeText: Patient has normal creatine phosphokinase levels, No Dyspnea at rest, No Ortopnea, No Airways infections, no myalgia

CasePreviousTesting: GAA gene sequencing to asses genotype.

GAA activity was reduced (0.36 microMol/L/h) in reference to standard (10.1 ± 6.6 microMol/L/h) This was measured by dried blood spot .

GAA muscle activity was 3.6 pmol/min/mg, no reference range was provided

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

ClinVar: 4027

CAID: CA116606

gnomAD: MAF= 0.005541 (Ashkenazi Jewish)

Variant 2: NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)

ClinVar:371277

CAID:CA16041893

gnomAD: N/A

ParentalGenotype: N/A

PreviouslyPublished: N/A

Patient20: Female

CasePresentingHPOs: HP:0004887, HP:0011471, HP:0001270, HP:0002546, HP:0000365

HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = 1:1.600, tracheostomy, partial heart normalization, moderate periventricular white matter abnormalities (hypomyelination)

CaseNotHPOs: HP:0002421, HP:0001371

NotHPOsFreeText: infusion associated reaction

CaseAddInfo: homozygous variant in trans, symtom onset and diagnosis at 4yo, ERT at 5yo

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.4(GAA):c.1564C>G (p.Pro522Ala)

ClinVar: 371277, https://www.ncbi.nlm.nih.gov/clinvar/variation/371277/

gnomAD: n/a