Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: SYCP2L

SYCP2L (synaptonemal complex protein 2 like)
EnsemblGeneIds (GRCh38): ENSG00000153157
EnsemblGeneIds (GRCh37): ENSG00000153157
OMIM: 616799, Gene2Phenotype
SYCP2L is in 2 panels

2 reviews

Elena Tucker (Murdoch Children's Research Institute)

Green List (high evidence)

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: 38521400
PMID: 32303603

Created: 31 Jul 2024, 4:46 a.m.
Last Modified: 31 Jul 2024, 4:46 a.m.
Panel version: 0.328

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

- 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: Literature
Created: 6 Mar 2021, 8:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian insufficiency

Created: 6 Mar 2021, 8:25 a.m.

Panel version: 0.189

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Premature ovarian failure 24, MIM# 620840

OMIM

616799

Clinvar variants

Variants in SYCP2L

Penetrance

None

Publications

Panels with this gene