1. Panels
  2. Prepair 1000+
  3. RFXAP
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: RFXAP

Green List (high evidence)
RFXAP (regulatory factor X associated protein)
EnsemblGeneIds (GRCh38): ENSG00000133111
EnsemblGeneIds (GRCh37): ENSG00000133111
OMIM: 601861, Gene2Phenotype
RFXAP is in 5 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Immunodeficiency characterized by the onset of recurrent, persistent infections from birth, resulting in failure to thrive. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Patients may die in infancy or early childhood, unless they undergo bone marrow transplantation, which can be curative, but complications are common.

9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model

The most frequent variant is a deletion c. delG484fsX525 which has been identified in 4 individuals of different origins (North African, Turkish and East Asian).
Created: 25 Sep 2024, 10:58 a.m. | Last Modified: 25 Sep 2024, 10:58 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MHC class II deficiency 4 MIM#620817

Publications

Created: 25 Sep 2024, 10:58 a.m.
Last Modified: 25 Sep 2024, 10:58 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MHC class II deficiency 4 MIM#620817
OMIM
601861
Clinvar variants
Variants in RFXAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

26 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: RFXAP were changed from Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) to MHC class II deficiency 4 MIM#620817

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: RFXAP were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RFXAP was added gene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)