Clefting
Gene: MYMK
MYMK (myomaker, myoblast fusion factor)
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 6 panels
1 review
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: 21 Aug 2017, 9:35 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 Green
- 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
29 Jan 2021, Gel status: 3
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
5 Nov 2017, Gel status: 4
Changed Gene Name
GEL ()TMEM8C was changed to MYMK
5 Nov 2017, Gel status: 4
Removed Tag
GEL ()new-gene-name was removed from TMEM8C. Panel: Clefting
21 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Aug 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)TMEM8C was added to Cleftingpanel. Sources: Literature
21 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TMEM8C was created by sleigh