Paediatric or syndromic cardiomyopathy
Gene: KIF20AComment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 29357359 describes 1 family with 2 affect sibs. The authors also made a zebrafish MO model, which had a progressive cardiac phenotype starting at 48 hpf. Currently, there is insufficient evidence to support a gene-disease association. Therefore this gene has been given a Red rating.Created: 10 Aug 2021, 9:14 a.m. | Last Modified: 10 Aug 2021, 9:14 a.m.
Panel Version: 1.53
Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: LiteratureCreated: 7 Aug 2021, 1:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, familial restrictive, 6, MIM# 619433
Publications
Gene: kif20a has been classified as Red List (Low Evidence).
Phenotypes for gene: KIF20A were changed from Cardiomyopathy, familial restrictive, 6, MIM# 619433 to ?Cardiomyopathy, familial restrictive, 6, OMIM:619433
gene: KIF20A was added gene: KIF20A was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF20A were set to 29357359 Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433 Review for gene: KIF20A was set to RED