Primary ovarian insufficiencyGene: SYCP2L
Comment on list classification: Only 2 unrelated individuals in literature at present (PMID:32303603) and therefore rating Amber until further cases are reported.
Created: 5 Mar 2021, 10:10 a.m. | Last Modified: 5 Mar 2021, 10:10 a.m.
Panel Version: 1.21
- 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.
Created: 5 Mar 2021, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Premature ovarian insufficiency
Gene: sycp2l has been classified as Amber List (Moderate Evidence).
gene: SYCP2L was added gene: SYCP2L was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYCP2L were set to 32303603 Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency Review for gene: SYCP2L was set to AMBER