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Transplant Co-Morbidity Superpanel

Gene: ALPK3

Green List (high evidence)
ALPK3 (alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000136383
EnsemblGeneIds (GRCh37): ENSG00000136383
OMIM: 617608, Gene2Phenotype
ALPK3 is in 7 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, MIM#618052
OMIM
617608
Clinvar variants
Variants in ALPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALPK3 was added gene: ALPK3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ALPK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 27106955; 26846950; 32480058 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM#618052