Combined Immunodeficiency
Gene: RFXANKEnsemblGeneIds (GRCh38): ENSG00000064490
EnsemblGeneIds (GRCh37): ENSG00000064490
OMIM: 603200, Gene2Phenotype
RFXANK is in 6 panels
1 review
Danielle Ariti (University of Melbourne)
7 different RFXANK variants have been reported in 26 unrelated individuals; two mouse models
Homozygous and compound heterozygous variants (deletion, missense, nonsense or splice-site) reported.
The most frequent variant is a 26-bp deletion (752delG-25) which was reported in 21 individuals
* Founder effect for this deletion variant has been demonstrated (North African origin)
In all cases, the clinical presentation included early onset recurrent infections, severe diarrhoea and failure to thrive.Created: 10 Aug 2021, 2:35 a.m. | Last Modified: 10 Aug 2021, 2:35 a.m.
Panel Version: 0.291
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 603200
- Clinvar variants
- Variants in RFXANK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rfxank has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RFXANK were changed from to 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RFXANK were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RFXANK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: RFXANK.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RFXANK was added gene: RFXANK was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RFXANK was set to Unknown