Genes in panel

Hereditary neuropathy

Gene: TWNK

Amber List (moderate evidence)

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

6 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Hereditary Neuropathies

Louise Daugherty (Genomics England Curator)

I don't know

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
added new-gene-name tag, new approved symbol is TWNK
Created: 22 May 2017, 11:36 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to reviewer's comments and review.
Created: 4 May 2016, 8:35 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

it causes PEO and mild cardiac involvement and myopathy, to my experience neuropathy is very rare in this gene defect
Created: 9 Dec 2015, 4:47 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Complex mitochondrial phenotype
Created: 9 Dec 2015, 8:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy

Mary Reilly (Institute of Neurology)

Complex mitochondrial phenotype
Created: 8 Dec 2015, 3:05 p.m.

History Filter Activity

7 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TWNK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TWNK.

5 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TWNK were changed from Hereditary Neuropathies to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy

5 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies for gene: TWNK

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TWNK.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TWNK.

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

C10orf2 was changed to TWNK

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from C10orf2. Panel: Charcot-Marie-Tooth disease

4 May 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).

4 May 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).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

C10orf2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C10orf2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN