Congenital ophthalmoplegia
Gene: MYMKEnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 10 panels
2 reviews
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.Created: 2 Nov 2020, 8:19 p.m. | Last Modified: 2 Nov 2020, 8:19 p.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome, MIM# 254940
Publications
Shannon LeBlanc (Victorian Clinical Genetics Services)
Congenital myopathy due to defect in myoblast fusion. Moebius syndrome / ophthalmoplegia is a common feature.
Sources: OtherCreated: 2 Nov 2020, 1:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome, MIM 254940
Publications
- PMID: 28681861
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Carey-Fineman-Ziter syndrome, MIM 254940
- Tags
- OMIM
- 615345
- Clinvar variants
- Variants in MYMK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mymk has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: MYMK.
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYMK were set to PMID: 28681861
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mymk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: MYMK was added gene: MYMK was added to Congenital fibrosis of the extraocular muscles. Sources: Other Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to PMID: 28681861 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, MIM 254940 Review for gene: MYMK was set to GREEN