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Newborns main panel

Gene: RFXAP

Green List (high evidence)
RFXAP (regulatory factor X associated protein)
EnsemblGeneIds (GRCh38): ENSG00000133111
EnsemblGeneIds (GRCh37): ENSG00000133111
OMIM: 601861, Gene2Phenotype
RFXAP is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review - PubMed (nih.gov) Table 3
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group D
OMIM
601861
Clinvar variants
Variants in RFXAP
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group D for gene: RFXAP

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group D for gene: RFXAP

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group D for gene: RFXAP

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RFXAP. Added phenotypes Bare lymphocyte syndrome, type II, complementation group D for gene: RFXAP Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RFXAP. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group D for gene: RFXAP

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RFXAP was added gene: RFXAP was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal