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Newborns main panel

Gene: RFX5

Green List (high evidence)
RFX5 (regulatory factor X5)
EnsemblGeneIds (GRCh38): ENSG00000143390
EnsemblGeneIds (GRCh37): ENSG00000143390
OMIM: 601863, Gene2Phenotype
RFX5 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 C
OMIM
601863
Clinvar variants
Variants in RFX5
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 C for gene: RFX5

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group C for gene: RFX5

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group C for gene: RFX5

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 RFX5. Added phenotypes Bare lymphocyte syndrome, type II, complementation group C for gene: RFX5 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 RFX5. 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 C for gene: RFX5

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RFX5 was added gene: RFX5 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal