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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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.

Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list
Created: 11 Jul 2020, 8:37 a.m. | Last Modified: 2 Nov 2020, 8:21 p.m.
Panel Version: 0.242

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
  • Expert list
Phenotypes
  • Carey-Fineman-Ziter syndrome 254940
Tags
founder
OMIM
615345
Clinvar variants
Variants in MYMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: MYMK.

11 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mymk has been classified as Green List (High Evidence).

11 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mymk has been classified as Green List (High Evidence).

11 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYMK was added gene: MYMK was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 28681861 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940 Review for gene: MYMK was set to GREEN