RFXAP

regulatory factor X associated protein
OMIM: 601861, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green RFXAP in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 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 RFXAP in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 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
Green RFXAP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Green RFXAP in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class II deficiency 4 MIM#620817
Green RFXAP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 Tags treatable immunological