Primary ovarian insufficiency
Gene: DACH2
Comment when marking as ready: Marked as amber as 2 mutations reported in sporadic patientsCreated: 22 May 2017, 9:21 a.m.
Not associated with phenotype in OMIM. Initially identified by fine mapping of the disrupted region in an X;autosome translocation in POI patients (10894934). A subsequent study in the Italian cohort of patients with POI revealed two novel missense mutations (p.R37L and p.F316S) (15459172). However, no additional mutations have been reported since.Created: 11 May 2017, 10:10 a.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 insufficiency
Publications
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for DACH2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for DACH2 were set to 15459172; 10894934
This gene has been classified as Amber List (Moderate Evidence).
DACH2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
DACH2 was created by arianna