Primary ovarian insufficiency
Gene: NUP107
NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as only one variant reported in one kindredCreated: 30 May 2017, 12:19 p.m.
One variant reported in one large kinderd
Created: 26 May 2017, 11:02 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Gonadal dysgenesis
- OMIM
- 607617
- Clinvar variants
- Variants in NUP107
- 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).
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)NUP107 was created by arianna
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)NUP107 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature