Leukodystrophy - adult onset
Gene: DCAF17

DCAF17 (DDB1 and CUL4 associated factor 17)
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

White matter lesions are part of the phenotype. Age of onset is variable, but some onset in late childhood/adolescence reported.
Created: 27 Apr 2020, 5:59 a.m. | Last Modified: 27 Apr 2020, 5:59 a.m.

Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woodhouse-Sakati syndrome, MIM# 241080

Created: 27 Apr 2020, 5:59 a.m.
Last Modified: 27 Apr 2020, 5:59 a.m.
Panel version: 0.24

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Woodhouse-Sakati syndrome, MIM#241080

OMIM

612515

Clinvar variants

Variants in DCAF17

Penetrance

None

Publications

31347785

Panels with this gene

History Filter Activity

27 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dcaf17 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DCAF17 was added gene: DCAF17 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF17 were set to 31347785 Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM#241080

Leukodystrophy - adult onset Gene: DCAF17