Primary ovarian insufficiency
Gene: SYCE1

SYCE1 (synaptonemal complex central element protein 1)
EnsemblGeneIds (GRCh38): ENSG00000171772
EnsemblGeneIds (GRCh37): ENSG00000171772
OMIM: 611486, Gene2Phenotype
SYCE1 is in 1 panel

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association (2 cases + 1 animal model). Therefore, this gene has been promoted from Amber to Green.
Created: 30 Nov 2021, 10:08 a.m. | Last Modified: 30 Nov 2021, 10:08 a.m.

Panel Version: 1.60

Comment on publications: PMID: 32917591. Authors made knockin mice with the mouse equivalent variant as Q241X seen in PMID:25062452. Both male and female homozygous mutant mice were infertile and replicated the human phenotype.

PMID:34718620. An additional case. Patient is compound heterozygous for variants in SYCE1.
Created: 30 Nov 2021, 10:06 a.m. | Last Modified: 30 Nov 2021, 10:06 a.m.

Panel Version: 1.59

Created: 30 Nov 2021, 10:06 a.m.
Last Modified: 30 Nov 2021, 10:06 a.m.
Panel version: 1.59

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure

Publications

34718620

Created: 23 Nov 2021, 11:44 a.m.
Last Modified: 23 Nov 2021, 11:44 a.m.
Panel version: 1.55

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as only one variant reported in one large family. phenotype not associated in OMIM

Created: 30 May 2017, 1:07 p.m.

Created: 30 May 2017, 1:07 p.m.

Panel version: 0.97

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

?Premature ovarian failure 12, OMIM:616947

OMIM

611486

Clinvar variants

Variants in SYCE1

Penetrance

Complete

Publications

Panels with this gene

Primary ovarian insufficiency

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: syce1 has been classified as Green List (High Evidence).

30 Nov 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SYCE1 were set to 25062452

30 Nov 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SYCE1 were changed from Premature ovarian failure 12616947 to ?Premature ovarian failure 12, OMIM:616947

31 May 2017, Gel status: 2