Inherited white matter disorders

Gene: TWNK

Green List (high evidence)

TWNK (twinkle mtDNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag HGNC Approved Gene Symbol is TWNK
Created: 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

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: Inherited white matter disorders

6 Oct 2016, Gel status: 4

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.

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C10orf2 was added to Inherited white matter disorderspanel. Sources: Expert list,Literature

12 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C10orf2 was created by ellenmcdonagh