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Cardiomyopathies - including childhood onset

Gene: ALPK3

Green List (high evidence)

ALPK3 (alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000136383
EnsemblGeneIds (GRCh37): ENSG00000136383
OMIM: 617608, Gene2Phenotype
ALPK3 is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, 618052
OMIM
617608
Clinvar variants
Variants in ALPK3
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, 618052

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ALPK3 was changed from to BIALLELIC, autosomal or pseudoautosomal

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ALPK3 was added gene: ALPK3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALPK3 was set to