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Hereditary neuropathy NOT PMP22 copy number

Gene: TUBB3

Amber List (moderate evidence)

TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 14 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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, 8:29 p.m. | Last Modified: 6 Dec 2019, 8:29 p.m.
Panel Version: 0.67
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, 8:28 p.m. | Last Modified: 6 Dec 2019, 8:28 p.m.
Panel Version: 0.67
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)

Green List (high evidence)

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)

Green List (high evidence)

CFEOM3A phenotype
Created: 9 Dec 2015, 8:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

CFEOM3A phenotype
Created: 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
  • Expert Review Amber
  • Expert Review
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
  • CFEOM3A
  • Fibrosis of extraocular muscles, congenital, 3A
OMIM
602661
Clinvar variants
Variants in TUBB3
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tubb3 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TUBB3 was added gene: TUBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A