Primary ovarian insufficiency

Gene: SYCP2L

Amber List (moderate evidence)

SYCP2L (synaptonemal complex protein 2 like)
EnsemblGeneIds (GRCh38): ENSG00000153157
EnsemblGeneIds (GRCh37): ENSG00000153157
OMIM: 616799, Gene2Phenotype
SYCP2L is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

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.
Sources: Literature
Created: 5 Mar 2021, 10:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Premature ovarian insufficiency



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Premature ovarian insufficiency
Clinvar variants
Variants in SYCP2L
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sycp2l has been classified as Amber List (Moderate Evidence).

5 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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