Primary ovarian insufficiency
Gene: DIAPH2Comment 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
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
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 geneCreated: 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
Mode of pathogenicity
Other
Gene: diaph2 has been classified as Red List (Low Evidence).
Phenotypes for gene: DIAPH2 were changed from Premature ovarian failure,300511 to ?Premature ovarian failure 2A, OMIM:300511
Publications for gene: DIAPH2 were set to 9497258
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for DIAPH2 were set to 9497258
Mode of pathogenicity for DIAPH2 was changed to Other - please provide details in the comments
This gene has been classified as Amber List (Moderate Evidence).
DIAPH2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Radboud University Medical Center, Nijmegen
DIAPH2 was created by ellenmcdonagh