Disorders of immune dysregulation
Gene: RIPK1
Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280Created: 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: LiteratureCreated: 12 Jan 2020, 7:19 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 57, MIM#618108
Publications
Publications for gene: RIPK1 were set to 30026316
Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ripk1 has been classified as Green List (High Evidence).
Gene: ripk1 has been classified as Green List (High Evidence).
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