Hereditary neuropathy
Gene: TUBB3
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
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: Gene added by a reviewer, and rated green by a second reviewer. It is a probable DD gene for congenital fibrosis of the extraocular muscles.Created: 9 May 2016, 10 a.m.
CFEOM3A phenotypeCreated: 9 Dec 2015, 8:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CFEOM3A phenotypeCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to TUBB3.
Source London North GLH was added to TUBB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; CFEOM3A; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TUBB3 was created by MReilly-925
TUBB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review