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Intellectual disability syndromic and non-syndromic

Gene: DCAF17

Green List (high evidence)

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)

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder characterised by hypogonadism and ID. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant. Multiple families from different backgrounds reported. In a cohort of 58 individuals from Qatar reported in PMID 3459078: ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behaviour (10%).
Created: 5 May 2022, 10:21 p.m. | Last Modified: 5 May 2022, 10:21 p.m.
Panel Version: 0.4751

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woodhouse-Sakati syndrome, MIM# 241080

Publications

History Filter Activity

5 May 2022, 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).

5 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, MIM# 241080

5 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCAF17 were set to

5 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCAF17 was added gene: DCAF17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DCAF17 was set to Unknown