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  2. Cardiomyopathy_Paediatric
  3. KIF20A
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Cardiomyopathy_Paediatric

Gene: KIF20A

Red List (low evidence)
KIF20A (kinesin family member 20A)
EnsemblGeneIds (GRCh38): ENSG00000112984
EnsemblGeneIds (GRCh37): ENSG00000112984
OMIM: 605664, Gene2Phenotype
KIF20A is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Created: 15 Jul 2021, 10:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, familial restrictive, 6, MIM# 619433

Publications

Created: 15 Jul 2021, 10:42 p.m.

Panel version: 0.97

Details

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

History Filter Activity

15 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF20A was added gene: KIF20A was added to Cardiomyopathy_Paediatric. 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