Muscular dystrophy and myopathy_Paediatric
Gene: MYMK
Carey-Fineman-Ziter syndrome is considered a congenital myopathy
Sources: OtherCreated: 5 Jun 2023, 4:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome MONDO:0009700
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Sources: Expert ReviewCreated: 5 Jan 2020, 2:30 a.m. | Last Modified: 2 Nov 2020, 8:20 p.m.
Panel Version: 1.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome; OMIM #254940
Publications
Gene: mymk has been classified as Green List (High Evidence).
Gene: mymk has been classified as Green List (High Evidence).
Gene: mymk has been classified as Red List (Low Evidence).
gene: MYMK was added gene: MYMK was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 32333597; 30065953 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMK was set to GREEN gene: MYMK was marked as current diagnostic