FADD

Fas associated via death domain
OMIM: 602457, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FADD in COVID-19 research


Level 2: Viral research
Version 1.130

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


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

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

Green FADD in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759