Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: SYCP2L

Green List (high evidence)

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

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

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

History Filter Activity

2 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYCP2L were set to

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sycp2l has been classified as Green List (High Evidence).

30 May 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYCP2L were changed from Premature ovarian insufficiency to Premature ovarian failure 24, MIM# 620840

6 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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