RFXANK

regulatory factor X associated ankyrin containing protein
OMIM: 603200, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green RFXANK in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Combined B and T cell defect v1.12 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 GOSH PID v.8.0 Combined B and T cell defect v1.12 Phenotypes MHC class II deficiency, complementation group B, OMIM:209920 HLA class II deficiency Respiratory and gastrointestinal infections, liver/biliary tract disease Immunodeficiencies affecting cellular and humoral immunity
Amber RFXANK in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MHC class II deficiency, complementation group B, OMIM:209920 Progressive Ataxia and Neurologic Regression
Green RFXANK 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 GOSH PID v.8.0 Combined B and T cell defect v1.12 Phenotypes MHC class II deficiency, complementation group B, OMIM:209920 HLA class II deficiency Respiratory and gastrointestinal infections, liver/biliary tract disease Immunodeficiencies affecting cellular and humoral immunity
Green RFXANK in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes MHC class II deficiency, complementation group B, 209920