Congenital myopathyGene: MYMK
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
Carey-Fineman-Ziter syndrome 254940
Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Source NHS GMS was added to MYMK.
TMEM8C was changed to MYMK
new-gene-name was removed from TMEM8C. Panel: Congenital myopathy
This gene has been classified as Green List (High Evidence).
TMEM8C was added to Congenital myopathypanel. Sources: Literature
TMEM8C was created by sleigh