Hereditary neuropathy or pain disorder
Gene: TYMP
Numerous TYMP variants have been associated with Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041, which includes peripheral neuropathy as one of the clinical features.Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Publications
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, 8:30 p.m. | Last Modified: 6 Dec 2019, 8:30 p.m.
Panel Version: 0.68
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)Created: 6 Dec 2019, 8:30 p.m. | Last Modified: 6 Dec 2019, 8:30 p.m.
Panel Version: 0.68
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 5 May 2016, 2:51 p.m.
neuropathy is commonCreated: 9 Dec 2015, 4:49 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Can present with neuropathy and should be included in R78 panelCreated: 17 Mar 2024, 9:45 p.m. | Last Modified: 17 Mar 2024, 9:45 p.m.
Panel Version: 3.83
MNGIECreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
MNGIECreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_24_promote_green tag was added to gene: TYMP. Tag Q2_24_NHS_review tag was added to gene: TYMP.
Gene: tymp has been classified as Amber List (Moderate Evidence).
gene: TYMP was added gene: TYMP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type)