FADD

Fas associated via death domain
OMIM: 602457, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green FADD in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • para-infectious encephalopathy and hepatopathy
  • Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction
  • Diseases of Immune Dysregulation
  • invasive pneumococcal disease
  • cardiovascular malformations
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
  • functional hyposplenism
  • ALPS-like disease
Green FADD in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
  • ALPS-like disease
  • functional hyposplenism
  • invasive pneumococcal disease
  • para-infectious encephalopathy and hepatopathy
  • cardiovascular malformations
  • Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction
  • Diseases of Immune Dysregulation
Red FADD in Structural eye disease


Level 2: Ophthalmology
Version 4.40
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • None
  • Iris coloboma, retinal coloboma