Genopathy
Gene-Disorder Association · Article
Gene
RFXANK
Regulatory Factor X Associated Ankyrin Containing Protein
Disorder
Mhc Class Ii Deficiency
First reported 1998
Supporting publications 12
Key publication · gene–disorder A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.Nature genetics · 1998
Key publication · disorder [The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression].Presse medicale (Paris, France : 1983) · 1984
Manually curated
Association Review

In brief

The association between RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein) and Mhc Class Ii Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 264
Symptoms 44
Compounds 0
Trials 0
Publications 12
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
RFXANK

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Mhc Class Ii Deficiency

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

38 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

264 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

12 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access