Pigmentary skin disorders

Gene: RAD51C

Amber List (moderate evidence)

RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 22 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

?Single case in literature. Amber on FA/Bloom syndrome GMS panel
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to RAD51C. Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO for gene: RAD51C Publications for gene RAD51C were changed from to 20400963 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to RAD51C. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: RAD51C was added gene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal