Hereditary neuropathy
Gene: TUBB3EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels
5 reviews
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Ellen McDonagh (Genomics England Curator)
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.
Alexander Rossor (UCL Institute of Neurology)
CFEOM3A phenotypeCreated: 9 Dec 2015, 8:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
CFEOM3A phenotypeCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
- CFEOM3A
- OMIM
- 602661
- Clinvar variants
- Variants in TUBB3
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Cerebral vascular malformations
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Congenital fibrosis of the extraocular muscles
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; CFEOM3A; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638; CFEOM3A
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBB3.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to TUBB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; CFEOM3A; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Mary Reilly (Institute of Neurology)TUBB3 was created by MReilly-925
Added New Source
Mary Reilly (Institute of Neurology)TUBB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review