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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. DACH2
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: DACH2

Red List (low evidence)
DACH2 (dachshund family transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000126733
EnsemblGeneIds (GRCh37): ENSG00000126733
OMIM: 300608, Gene2Phenotype
DACH2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

In a small candidate gene study, missense were more common in POI cases than controls (p= 0.0125). 5 missense reported in 7 POI cases, although 2 of the missense are too common in gnomAD for a dominant disorder. No other reports with evidence for an association with POI.
Created: 11 Dec 2020, 3:21 a.m. | Last Modified: 11 Dec 2020, 3:21 a.m.
Panel Version: 0.102

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 11 Dec 2020, 3:21 a.m.
Last Modified: 11 Dec 2020, 3:21 a.m.
Panel version: 0.102

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Primary ovarian failure, MONDO:0005387, DACH2-related
OMIM
300608
Clinvar variants
Variants in DACH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related

11 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dach2 has been classified as Red List (Low Evidence).

11 Dec 2020, Gel status: 1

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DACH2 were changed from to Primary ovarian insufficiency

11 Dec 2020, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DACH2 were set to

11 Dec 2020, Gel status: 1

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: DACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: DACH2 was added gene: DACH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: DACH2 was set to Unknown