RIPK1

receptor interacting serine/threonine kinase 1
OMIM: 603453, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RIPK1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 57, MIM#618108

Green RIPK1 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 57, MIM#618108

Green RIPK1 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 57, MIM#618108

Green RIPK1 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

2 reviews 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