Pigmentary skin disorders
Gene: RAD51C
?Single case in literature. Amber on FA/Bloom syndrome GMS panelCreated: 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
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
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)
Source Expert Review Green was added to RAD51C. Rating Changed from Red List (low evidence) to Green List (high evidence)
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