Paediatric pseudo-obstruction syndrome
Gene: KIF26A
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on rating: I do not find any cases in support of the implication of this gene in chronic megacolon and hence the rating should be RED. However, mouse models with Kif26a knockout developed megacolon, enteric nerve hyperplasia in the colon and functional bowel abnormalities.
This gene has not yet been associated with megacolon or Hirschsprung disease in OMIM.Created: 21 Dec 2022, 11:12 a.m. | Last Modified: 21 Dec 2022, 11:12 a.m.
Panel Version: 0.53
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: kinesin family member 26A.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
GDNF-Ret in ENS development
Publications
Phenotypes for gene: KIF26A were changed from to GDNF-Ret in ENS development
Mode of inheritance for gene: KIF26A was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to
gene: KIF26A was added gene: KIF26A was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: KIF26A was set to