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Mendeliome

Gene: RFXANK

Green List (high evidence)

RFXANK (regulatory factor X associated ankyrin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000064490
EnsemblGeneIds (GRCh37): ENSG00000064490
OMIM: 603200, Gene2Phenotype
RFXANK is in 6 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

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, 6:02 a.m. | Last Modified: 10 Aug 2021, 6:02 a.m.
Panel Version: 0.8713

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
  • 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
OMIM
603200
Clinvar variants
Variants in RFXANK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rfxank has been classified as Green List (High Evidence).

10 Aug 2021, Gel status: 3

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

10 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RFXANK were set to

10 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: RFXANK.

10 Aug 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RFXANK was set to Unknown