Primary ovarian insufficiency

Gene: NUP107

Amber List (moderate evidence)

NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 8 panels

1 review

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as only one variant reported in one kindred
Created: 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