Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: DAZL
PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: LiteratureCreated: 28 Nov 2021, 11:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related
Gene: dazl has been classified as Amber List (Moderate Evidence).
Gene: dazl has been classified as Amber List (Moderate Evidence).
gene: DAZL was added gene: DAZL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969 Phenotypes for gene: DAZL were set to Primary ovarian insufficiency Review for gene: DAZL was set to AMBER