Primary ovarian insufficiency

Gene: TWNK

Green List (high evidence)

TWNK (twinkle mtDNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 16 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clear evidence of involvement n POI from recent papers about Perrault syndrome
Created: 9 Jun 2017, 1:53 p.m.
Clear evidence from papers and reviews for POI.
Created: 9 Jun 2017, 1:52 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: HGNC Approved Gene Symbol: TWNK
Created: 22 May 2017, 10:16 a.m.
Comment when marking as ready: Marked as green as biallelic mutations cause Perrault syndrome, of which POI is a feature
Created: 22 May 2017, 9:12 a.m.
ovarian dysfunction can be a feature of Perrault syndrome
Created: 19 May 2017, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 5, 616138

Publications

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

C10orf2 was changed to TWNK

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from C10orf2. Panel: Early onset familial premature ovarian insufficiency

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

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

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

C10orf2 was created by arianna

19 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

C10orf2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature