Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: DIAPH2

Red List (low evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

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.
Created: 25 Jun 2020, 7:48 a.m. | Last Modified: 25 Jun 2020, 7:48 a.m.
Panel Version: 0.11

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 MIM#300511

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Premature ovarian failure 2A 300511
Tags
SV/CNV
OMIM
300108
Clinvar variants
Variants in DIAPH2
Penetrance
None
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: diaph2 has been classified as Red List (Low Evidence).

25 Jun 2020, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag SV/CNV tag was added to gene: DIAPH2.

25 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: diaph2 has been classified as Red List (Low Evidence).

24 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DIAPH2 was added gene: DIAPH2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DIAPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DIAPH2 were set to ?Premature ovarian failure 2A 300511