Arthrogryposis
Gene: MYMK
MYMK (myomaker, myoblast fusion factor)
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 listCreated: 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
- 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