Non-syndromic familial congenital anorectal malformations

Gene: MYH14

Amber List (moderate evidence)

MYH14 (myosin heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000105357
EnsemblGeneIds (GRCh37): ENSG00000105357
OMIM: 608568, Gene2Phenotype
MYH14 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ARM with recto-perineal fistulas
Tags
watchlist
OMIM
608568
Clinvar variants
Variants in MYH14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: This gene has been added to th

8 Nov 2018, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: MYH14.

1 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: myh14 has been classified as Amber List (Moderate Evidence).

1 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: myh14 has been classified as Amber List (Moderate Evidence).

14 Aug 2018, Gel status: 1

Set penetrance

Eleanor Williams (Genomics England Curator)

Phenotypes for gene MYH14 were set to ARM with recto-perineal fistulas

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

MYH14 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

MYH14 was created by Eleanor Williams