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Cardiomyopathies - including childhood onset

Gene: KIF20A

Red List (low evidence)

KIF20A (kinesin family member 20A)
EnsemblGeneIds (GRCh38): ENSG00000112984
EnsemblGeneIds (GRCh37): ENSG00000112984
OMIM: 605664, Gene2Phenotype
KIF20A is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment 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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Created: 7 Aug 2021, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, familial restrictive, 6, MIM# 619433

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Cardiomyopathy, familial restrictive, 6, OMIM:619433
OMIM
605664
Clinvar variants
Variants in KIF20A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kif20a has been classified as Red List (Low Evidence).

10 Aug 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KIF20A were changed from Cardiomyopathy, familial restrictive, 6, MIM# 619433 to ?Cardiomyopathy, familial restrictive, 6, OMIM:619433

7 Aug 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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