Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: DMC1
1 case with POI and 1 family with diminished ovarian reserve rather than POI, and a supporting mouse model
PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile.
Sources: LiteratureCreated: 30 Nov 2021, 12:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency; non-obstructive azoospermia
Publications
Gene: dmc1 has been classified as Amber List (Moderate Evidence).
Gene: dmc1 has been classified as Amber List (Moderate Evidence).
gene: DMC1 was added gene: DMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953 Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia Review for gene: DMC1 was set to AMBER