DiseaseAssertion: Cardiomyopathy

VariantPreviousTesting: ACTC1, ACTN2, CSRP3, LAMP2, MYBPC3, MYH7, NEXN, PLN, TNNC1, TNNI3, TNNT2, TPM1, ABCC9, CTF1, DES, EMD, LDB3, LMNA, MYH6, RBM20, SGCD, TAZ, TCAP, TTN, VCL, CAV3, GLA, MYL2, MYL3, MYOZ2, PRKAG2, TTR, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43, CASQ2 and RYR2 were all tested in the PanCM panel.

VariantGenotypingMethod: Next-generation sequencing panels were used to sequence and read the genetic information of the 305 PanCM probands for variants within exons and in +/- 10 nucleotides within the flanking introns of the genes provided above. These variants were then interpreted and filtered for pathogenicity.

VariantAddInfo: Seen in one PanCM proband

Variant: NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)

ClinVar: 14092 https://www.ncbi.nlm.nih.gov/clinvar/variation/14092/

gnomAD: Not in gnomAD

DiseaseAssertion: cardiomyopathy

Variant: NM_000257.4:c.2543A>G

ClinVar: 177758

CAID: CA012584

CaseII-2: 34 year old female

DiseaseAssertion: Laing distal myopathy

FamilyInfo: Hungarian Roma Family, mother and third affected daughter present with MYH7 mutation, all three daughters present symptoms of myopathy

CasePresentingHPOs: HP:0002938, HP:0003722, HP:0001284, HP:0009027, HP:0003376

"Lumbar hyperlordosis, Neck flexor weakness, Areflexia, Foot dorsiflexor weakness, Steppage gait"

CaseHPOFreeText: unable to walk unaided, generalized muscle atrophy involving the limbs and the paravertebral muscles, severe weakness of both proximal and distal muscles (especially in finger and toe extensors), deep tendon reflexes absent, foot drop, wheel-chair bound by age 27,

CaseNotHPOs: n/a

CaseNotHPOFreeText: respiratory or cardiac involvement

CasePreviousTesting: n/a

GenotypingMethod: WES and Sanger sequencing, trio exome sequencing approach including the two affected daughters (III-1 and III-2) and their unaffected father (II-1)

Variant: NM_000257.4:c.4849_4851del

ClinVar: 190401

CAID: CA015411

gnomAD: not found