RFXANK

regulatory factor X associated ankyrin containing protein
OMIM: 603200, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green RFXANK in Mendeliome Version 1.3795	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MHC class II deficiency, complementation group B MIM# 209920 Bare Lymphocyte Syndrome, type II, complementation group B Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags founder
Green RFXANK in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes MHC class II deficiency, complementation group B MIM# 209920 Bare Lymphocyte Syndrome, type II, complementation group B Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags founder
Amber RFXANK in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.158 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Progressive Ataxia and Neurologic Regression MHC class II deficiency, complementation group B MIM#209920
Green RFXANK in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class II deficiency, complementation group B, 209920 (3)
Green RFXANK in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class II deficiency 2, MIM#620815
Green RFXANK in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes MHC class II deficiency, complementation group B , MIM#209920 Tags treatable immunological