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Newborns main panel

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 3 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 2 (NB gene name is wrong in the table heading!)
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 B
OMIM
603200
Clinvar variants
Variants in RFXANK
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 B for gene: RFXANK

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group B for gene: RFXANK

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group B for gene: RFXANK

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 RFXANK. Added phenotypes Bare lymphocyte syndrome, type II, complementation group B for gene: RFXANK 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 RFXANK. 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 B for gene: RFXANK

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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