Primary ovarian insufficiency
Gene: SYCE1Comment 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure
Publications
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.
Gene: syce1 has been classified as Green List (High Evidence).
Publications for gene: SYCE1 were set to 25062452
Phenotypes for gene: SYCE1 were changed from Premature ovarian failure 12616947 to ?Premature ovarian failure 12, OMIM:616947
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SYCE1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
SYCE1 was created by arianna