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
EnsemblGeneIds (GRCh38): ENSG00000137275
EnsemblGeneIds (GRCh37): ENSG00000137275
OMIM: 603453, Gene2Phenotype
RIPK1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ten families reported, inflammatory bowel disease/enteropathy is a common feature of this immune dysregulation syndrome.
Sources: LiteratureCreated: 30 Apr 2020, 10:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 57, MIM#618108
Publications
Details
- Mode of Inheritance
- 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
History Filter Activity
30 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ripk1 has been classified as Green List (High Evidence).
30 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ripk1 has been classified as Green List (High Evidence).
30 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RIPK1 was added gene: RIPK1 was added to Inflammatory bowel disease. Sources: Literature 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