Primary ovarian insufficiency

Gene: DIAPH2

Amber List (moderate evidence)

DIAPH2 (diaphanous related formin 2)
EnsemblGeneIds (GRCh38): ENSG00000147202
EnsemblGeneIds (GRCh37): ENSG00000147202
OMIM: 300108, Gene2Phenotype
DIAPH2 is in 2 panels

1 review

Arianna Tucci (Genomics England Curator)

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

Mode of pathogenicity
Other

Details

Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Premature ovarian failure,300511
OMIM
300108
Clinvar variants
Variants in DIAPH2
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 May 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for DIAPH2 were set to 9497258

22 May 2017, Gel status: 2

Set mode of pathogenicity

Arianna Tucci (Genomics England Curator)

Mode of pathogenicity for DIAPH2 was changed to Other - please provide details in the comments

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DIAPH2 was created by ellenmcdonagh

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DIAPH2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Radboud University Medical Center, Nijmegen