Infantile enterocolitis & monogenic inflammatory bowel disease
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 (Australian Genomics)

Green List (high evidence)

Ten families reported, inflammatory bowel disease/enteropathy is a common feature of this immune dysregulation syndrome.
Sources: Expert list
Created: 25 Aug 2020, 8:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 57, MIM#618108

Publications

Created: 25 Aug 2020, 8:35 a.m.

Panel version: 1.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Immunodeficiency 57, OMIM:618108

OMIM

603453

Clinvar variants

Variants in RIPK1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RIPK1 were changed from Immunodeficiency 57, MIM#618108 to Immunodeficiency 57, OMIM:618108

25 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RIPK1 was added gene: RIPK1 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert list Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK1 were set to 30026316; 30591564; 31213653 Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108 Review for gene: RIPK1 was set to GREEN

Infantile enterocolitis & monogenic inflammatory bowel disease Gene: RIPK1