Congenital muscular dystrophy
Gene: MYMKEnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 6 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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)
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Literature
- Phenotypes
-
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
- OMIM
- 615345
- Clinvar variants
- Variants in MYMK
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)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.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to MYMK. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_rating tag was added to gene: MYMK.
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_expert_review tag was added to gene: MYMK. Tag Q3_21_phenotype tag was added to gene: MYMK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYMK.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, 254940
Changed Gene Name
GEL ()TMEM8C was changed to MYMK
Removed Tag
GEL ()new-gene-name was removed from TMEM8C. Panel: Congenital muscular dystrophy
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)TMEM8C was added to Congenital muscular dystrophypanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)TMEM8C was created by sleigh