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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. SYCE1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: SYCE1

Green List (high evidence)
SYCE1 (synaptonemal complex central element protein 1)
EnsemblGeneIds (GRCh38): ENSG00000171772
EnsemblGeneIds (GRCh37): ENSG00000171772
OMIM: 611486, Gene2Phenotype
SYCE1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families reported with POF and bi-allelic variants in this gene. However, mechanism is thought to be disruption of meiosis, and there are also several reports of families with spermatogenic failure and bi-allelic variants in this gene plus mouse model data also supports gene-disease association.
Created: 11 Dec 2020, 4:39 a.m. | Last Modified: 11 Dec 2020, 4:39 a.m.
Panel Version: 0.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 12, MIM# 616947

Publications

Created: 11 Dec 2020, 4:39 a.m.
Last Modified: 11 Dec 2020, 4:39 a.m.
Panel version: 0.119

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure 12, MIM# 616947
OMIM
611486
Clinvar variants
Variants in SYCE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYCE1 were changed from to Premature ovarian failure 12, MIM# 616947

11 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYCE1 were set to

11 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: SYCE1 was added gene: SYCE1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: SYCE1 was set to Unknown