Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: DIAPH2EnsemblGeneIds (GRCh38): ENSG00000147202
EnsemblGeneIds (GRCh37): ENSG00000147202
OMIM: 300108, Gene2Phenotype
DIAPH2 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
- OMIM
- 300108
- Clinvar variants
- Variants in DIAPH2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: diaph2 has been classified as Red List (Low Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag SV/CNV tag was added to gene: DIAPH2.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: diaph2 has been classified as Red List (Low Evidence).
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