Hereditary neuropathy or pain disorder
Gene: TWNK
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: mitochondrial, comment that neuropathy is not commonCreated: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
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)
gene: TWNK was added gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy