Primary ovarian insufficiency
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Clear evidence of involvement n POI from recent papers about Perrault syndromeCreated: 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)
Comment when marking as ready: HGNC Approved Gene Symbol: TWNKCreated: 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 featureCreated: 22 May 2017, 9:12 a.m.
ovarian dysfunction can be a feature of Perrault syndromeCreated: 19 May 2017, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 5, 616138
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Perrault syndrome 5, OMIM:616138
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Primary ovarian insufficiency
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TWNK were changed from Perrault syndrome 5, 616138 to Perrault syndrome 5, OMIM:616138
Changed Gene Name
GEL ()C10orf2 was changed to TWNK
Removed Tag
GEL ()new-gene-name was removed from C10orf2. Panel: Early onset familial premature ovarian insufficiency
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)C10orf2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
Created
Arianna Tucci (Genomics England Curator)C10orf2 was created by arianna