Disorders of immune dysregulation

Gene: RIPK1

Green List (high evidence)

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

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

History Filter Activity

30 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RIPK1 were set to 30026316

30 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jan 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).

12 Jan 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).

12 Jan 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 Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK1 were set to 30026316 Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108 Review for gene: RIPK1 was set to GREEN