Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: SYCP2L
PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters (c.1528C>T, p.(Gln510Ter))
PMID: 32303603 - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L. Concordant mouse model.Created: 31 Jul 2024, 4:46 a.m. | Last Modified: 31 Jul 2024, 4:46 a.m.
Panel Version: 0.328
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: LiteratureCreated: 6 Mar 2021, 8:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian insufficiency
Publications for gene: SYCP2L were set to
Gene: sycp2l has been classified as Green List (High Evidence).
Phenotypes for gene: SYCP2L were changed from Premature ovarian insufficiency to Premature ovarian failure 24, MIM# 620840
Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Gene: sycp2l has been classified as Amber List (Moderate Evidence).
gene: SYCP2L was added gene: SYCP2L was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency Review for gene: SYCP2L was set to AMBER