Non-syndromic familial congenital anorectal malformations
Gene: MYH14Comment on list classification: Rated Amber as there are 2 cases reported plus some functional data.Created: 1 Nov 2018, 3:27 p.m.
This gene has been added to the panel due to the report of Zhu et al 2017 (PMID: 28191911) who describe whole exome sequencing of 8 family members of a non-consanguineous Chinese family with 2 individuals with anorectal malformations with recto-perineal fistulas. A homozygous mutation in MYH14 was identified in the two siblings of family 1. Targeted exome sequencing of MYH14 in 72 unrelated probands with ARMs was then performed and a individual with compound heterozygous MYH14 changes was identified. MYH14 codes for one of the non-muscle myosinII heavy chain (NMHC II) proteins—NMHC IIC and the authors also report that immunohistochemical analysis suggest stronger NMHC IIC localization in the epithelium of the murineembryonic cloaca, urorectal septum and hindgut compared with another two NMHC IIisoforms.
Not associated with relevant phenotypes in OMIM or Gene2Phenotype.Created: 4 Aug 2018, 11:10 p.m.
Eleanor Williams: This gene has been added to th
Tag watchlist tag was added to gene: MYH14.
Gene: myh14 has been classified as Amber List (Moderate Evidence).
Gene: myh14 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene MYH14 were set to ARM with recto-perineal fistulas
MYH14 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
MYH14 was created by Eleanor Williams