Primary ovarian insufficiency

Gene: SYCE1

Amber List (moderate evidence)

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

1 review

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.
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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure 12616947
OMIM
611486
Clinvar variants
Variants in SYCE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

SYCE1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

25 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

SYCE1 was created by arianna