Congenital muscular dystrophy
Gene: MYMK
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. MYMK will remain green on the Congenital Myopathy panel.Created: 1 Feb 2023, 4:51 p.m. | Last Modified: 1 Feb 2023, 4:51 p.m.
Panel Version: 3.22
Added the Q3_21_rating tag so it is clear the rating is being assessed for this gene.Created: 6 Oct 2022, 2:26 p.m. | Last Modified: 6 Oct 2022, 2:26 p.m.
Panel Version: 2.31
This gene has been tagged to be reviewed by the GMS specialist group to see whether the phenotype is appropriate for the panel or not.Created: 18 Oct 2021, 9:06 a.m. | Last Modified: 18 Oct 2021, 9:06 a.m.
Panel Version: 2.18
This is a myopathy, not CMD.Created: 24 Jun 2020, 9:11 a.m. | Last Modified: 24 Jun 2020, 9:11 a.m.
Panel Version: 2.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome (MIM #254940)
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 MYMKCreated: 5 Sep 2017, 7:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome 254940
Publications
Tag Q3_21_rating was removed from gene: MYMK. Tag Q3_21_expert_review was removed from gene: MYMK. Tag Q3_21_phenotype was removed from gene: MYMK.
Source Expert Review Red was added to MYMK. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q3_21_rating tag was added to gene: MYMK.
Tag Q3_21_expert_review tag was added to gene: MYMK. Tag Q3_21_phenotype tag was added to gene: MYMK.
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.
Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, 254940
TMEM8C was changed to MYMK
new-gene-name was removed from TMEM8C. Panel: Congenital muscular dystrophy
This gene has been classified as Green List (High Evidence).
TMEM8C was added to Congenital muscular dystrophypanel. Sources: Literature
TMEM8C was created by sleigh