Congenital muscular dystrophy and congenital myopathy

Gene: MYMK

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 5 variants were reported in 5 unrelated families. One variant was identified in four unrelated compound heterozygous families, the remaining variants were each different. Haplotype analysis confirmed the founder effect of this common variant and all variants segregated with the condition. The fifth variant was reported as a homozygote in a 28-year-old Brazilian woman, born of consanguineous parents, other samples were not available for segregation analysis, but in vitro functional studies suggested pathogenicity. New gene name for TMEM8C is MYMK

Created: 5 Sep 2017, 7:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome 254940

Publications

• 28681861