Inherited white matter disorders
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tag HGNC Approved Gene Symbol is TWNKCreated: 22 May 2017, 11:38 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer (Ian Berry (Leeds Genetics Laboratory). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for the Mitochondrial DNA depletion syndrome 7 phenotype. Multiple cases with different variants reported in OMIM. Green gene on the version 1.7 Mitochondrial panel and version 1.7 Hereditary ataix panels.Created: 12 Aug 2016, 12:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 7
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Mitochondrial DNA depletion syndrome 7
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Hereditary ataxia with onset in adulthood
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_MOI was removed from gene: TWNK.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_MOI tag was added to gene: TWNK.
Changed Gene Name
GEL ()C10orf2 was changed to TWNK
Removed Tag
GEL ()new-gene-name was removed from C10orf2. Panel: Inherited white matter disorders
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to Inherited white matter disorderspanel. Sources: Expert list,Literature
Created
Ellen McDonagh (Genomics England Curator)C10orf2 was created by ellenmcdonagh