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  3. RIPK1
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Autoinflammatory Disorders

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Variants involving residue D324 impair caspase-8-mediated cleavage of RIPK1 and lead to RIPK1 activation. At least 5 families reported with D324N/H/Y and a supporting mouse model.
Sources: Expert list
Created: 16 Dec 2024, 4:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autoinflammation with episodic fever and lymphadenopathy MONDO:0030018

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Dec 2024, 4:41 a.m.

Panel version: 1.66

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: Imported from Disorders of immune dysregulation panel version 0.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • autoinflammation with episodic fever and lymphadenopathy MONDO:0030018
OMIM
603453
Clinvar variants
Variants in RIPK1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ripk1 has been classified as Green List (High Evidence).

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ripk1 has been classified as Green List (High Evidence).

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RIPK1 was added gene: RIPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: RIPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIPK1 were set to 31827280; 31827281 Phenotypes for gene: RIPK1 were set to autoinflammation with episodic fever and lymphadenopathy MONDO:0030018 Mode of pathogenicity for gene: RIPK1 was set to Other Review for gene: RIPK1 was set to GREEN gene: RIPK1 was marked as current diagnostic