Autoinflammatory Disorders
Gene: ALPK1

ALPK1 (alpha kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000073331
EnsemblGeneIds (GRCh37): ENSG00000073331
OMIM: 607347, Gene2Phenotype
ALPK1 is in 3 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

27 patients with ROSAH syndrome, in vitro assays and systematic analysis of inflammatory features establishing ROSAH as autoinflammatory disease.
Created: 25 Jul 2022, 9:34 p.m. | Last Modified: 25 Jul 2022, 9:34 p.m.

Panel Version: 0.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
retinal dystrophy; optic nerve oedema; splenomegaly; anhidrosis; headache

Publications

PMID: 35868845

Created: 25 Jul 2022, 9:34 p.m.
Last Modified: 25 Jul 2022, 9:34 p.m.
Panel version: 0.156

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Created: 22 Apr 2020, 7:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Publications

31053777

Created: 22 Apr 2020, 7:15 a.m.

Panel version: 0.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

OMIM

607347

Clinvar variants

Variants in ALPK1

Penetrance

None

Publications

Panels with this gene