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Newborns main panel

Gene: ALPK1

Green List (high evidence)
ALPK1 (alpha kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000073331
EnsemblGeneIds (GRCh37): ENSG00000073331
OMIM: 607347, Gene2Phenotype
ALPK1 is in 6 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 39626775 references 67 cases
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • ROSAH syndrome
OMIM
607347
Clinvar variants
Variants in ALPK1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: ALPK1 was added gene: ALPK1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ALPK1 were set to ROSAH syndrome Mode of pathogenicity for gene: ALPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments