Pigmentary skin disordersGene: ERCC4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
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
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF for gene: ERCC4 Publications for gene ERCC4 were changed from to 8797827
Source Expert Review Green was added to ERCC4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ERCC4 was added gene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal