Hereditary neuropathy
Gene: TWNK
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
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 TWNKCreated: 22 May 2017, 11:36 a.m.
Comment on list classification: Demoted from amber to red due to reviewer's comments and review.Created: 4 May 2016, 8:35 a.m.
it causes PEO and mild cardiac involvement and myopathy, to my experience neuropathy is very rare in this gene defectCreated: 9 Dec 2015, 4:47 p.m.
Complex mitochondrial phenotypeCreated: 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
Complex mitochondrial phenotypeCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source Expert Review Amber was added to TWNK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source London North GLH was added to TWNK.
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
Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary Neuropathies for gene: TWNK
Source NHS GMS was added to TWNK.
Source South West GLH was added to TWNK.
C10orf2 was changed to TWNK
new-gene-name was removed from C10orf2. Panel: Charcot-Marie-Tooth disease
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
C10orf2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN
C10orf2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN