Genomics England

DDB1 and CUL4 associated factor 17

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Woodhouse-Sakati syndrome, OMIM:241080
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, Woodhouse-Sakati syndrome, 241080
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Woodhouse-Sakati syndrome, 241080, WOODHOUSE-SAKATI SYNDROME (WOSAS)
Green in Monogenic diabetes R-numbers: R141 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Woodhouse-Sakati syndrome, 241080, Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Woodhouse-Sakati syndrome, OMIM:241080