Primary Ovarian Insufficiency_Premature Ovarian Failure

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Primary hypogonadism (including primary ovarian failure) is a common feature of the condition.
Sources: Literature
Created: 25 Nov 2021, 11:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woodhouse-Sakati syndrome MIM#241080

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 Nov 2021, Gel status: 1

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 Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF17 were set to 34590781; 34794894; 19026396 Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome MIM#241080 Review for gene: DCAF17 was set to GREEN gene: DCAF17 was marked as current diagnostic