Primary ovarian insufficiency

Gene: DIAPH2

Comment on list classification: Demoted from Amber to Red based on expert review.

Created: 13 May 2021, 2:22 p.m. | Last Modified: 13 May 2021, 2:22 p.m.

Panel Version: 1.30

Red List (low evidence)

Xq translocations with a breakpoint within the gene have been reported in multiple cases with premature ovarian failure. There is no strong functional evidence for a gene-disease association esp for SNVs.

Created: 7 Jan 2021, 8:25 a.m. | Last Modified: 7 Jan 2021, 8:25 a.m.

Panel Version: 1.19

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Premature ovarian failure 2A MIM#300511

Publications

• 9497258
• 30689869
• 26175800
• 11129329

I don't know

Comment when marking as ready: Marked as amber as only one family reported with a balance translocation, and the breakpoint mapping in the intron of the gene

Created: 22 May 2017, 9:27 a.m.

Comment on mode of pathogenicity: A balance translocation described in one family, with the breakpoint mapping in the last 200-kb intron of the DIAPH2 gene.

Created: 22 May 2017, 9:24 a.m.

Limited evidence of association with the disease: A balance translocation described in one family (mother and daughter, both affected), with the translocation breakpoint mapping in the last 200-kb intron of the DIAPH2 gene.

Created: 10 May 2017, 12:03 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Premature ovarian failure 2A, 300511

Publications

• 9497258

Mode of pathogenicity
Other