Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ALPK1EnsemblGeneIds (GRCh38): ENSG00000073331
EnsemblGeneIds (GRCh37): ENSG00000073331
OMIM: 607347, Gene2Phenotype
ALPK1 is in 5 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:54 p.m. | Last Modified: 11 Oct 2023, 12:54 p.m.
Panel Version: 4.37
Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype (Strong). There is enough evidence to support a gene-disease association - recurrent infections present in some. This gene should be rated Green at the next review.
PMID: 35868845 - 27 patients with ROSAH syndrome, in vitro assays and systematic analysis demonstrated inflammatory features establishing ROSAH as autoinflammatory disease.Created: 4 Apr 2023, 11:15 a.m. | Last Modified: 4 Apr 2023, 11:15 a.m.
Panel Version: 4.3
Dmitrijs Rots (Children's Clinical University Hospital)
GoF missense variants in ALPK1 cause autoinflammatory condition ROSAH, with most individuals having inflammation, immune therapy available.
Sources: LiteratureCreated: 21 Sep 2022, 4:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ROSAH syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ROSAH syndrome, OMIM:614979
- OMIM
- 607347
- Clinvar variants
- Variants in ALPK1
- Penetrance
- unknown
- Publications
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: ALPK1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to ALPK1. Source NHS GMS was added to ALPK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ALPK1 were set to 35868845
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: ALPK1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ALPK1 were changed from ROSAH syndrome to ROSAH syndrome, OMIM:614979
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Dmitrijs Rots (Children's Clinical University Hospital)gene: ALPK1 was added gene: ALPK1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALPK1 were set to 35868845 Phenotypes for gene: ALPK1 were set to ROSAH syndrome Penetrance for gene: ALPK1 were set to unknown 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 Review for gene: ALPK1 was set to GREEN