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Arthrogryposis

Gene: MYMK

Green List (high evidence)

MYMK (myomaker, myoblast fusion factor)
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

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, 7:42 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 254940
OMIM
615345
Clinvar variants
Variants in MYMK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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: Arthrogryposis

5 Sep 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).

5 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TMEM8C was added to Arthrogryposispanel. Sources: Literature

5 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TMEM8C was created by sleigh