FADD

Fas associated via death domain
OMIM: 602457, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green FADD in COVID-19 research Level 2: Viral research Version 1.142	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 Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes None Iris coloboma, retinal coloboma
Green FADD in Severe Paediatric Disorders Version 1.184	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