Disorders of immune dysregulation
Gene: RIPK1

RIPK1 (receptor interacting serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137275
EnsemblGeneIds (GRCh37): ENSG00000137275
OMIM: 603453, Gene2Phenotype
RIPK1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280
Created: 30 Apr 2020, 10:42 p.m. | Last Modified: 30 Apr 2020, 11:05 p.m.

Panel Version: 0.58

Seven further families reported, inflammatory bowel disease/enteropathy common features.
Created: 30 Apr 2020, 10:37 p.m. | Last Modified: 30 Apr 2020, 10:37 p.m.

Panel Version: 0.56

Three unrelated families reported.
Sources: Literature
Created: 12 Jan 2020, 7:19 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 57, MIM#618108

Publications

Created: 12 Jan 2020, 7:19 a.m.
Last Modified: 30 Apr 2020, 11:05 p.m.
Panel version: 0.56

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Immunodeficiency 57, MIM#618108

OMIM

603453

Clinvar variants

Variants in RIPK1

Penetrance

None

Publications

Panels with this gene