Hereditary neuropathy

Gene: TRIM2

I don't know

Possibly a green by could do with funcational data of extra families. PMID: 23562820 - compound heterozygous for missense and frameshift - segregated in family. Frameshift underwent nonsense-mediated mRNA decay. PMID: 18687884 - Trim -/- mice indistinguishable from wildtype and heterozygous littermates until about 1.5 months of age, when they began to show intention tremor, followed by gait ataxia. In later stages, Trim -/- mice suffered from episodes of spontaneous generalized seizures. PMID: 25893792 - homozygous missense variant in proband with early onset CMT and bilateral vocal cord paralysis

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 2R, 615490

Publications

• 23562820
• 18687884
• 25893792

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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.

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.

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Two families reported to date. Await further families before promoted to green list.

Created: 8 Jul 2016, 4:25 a.m.

Comment on list classification: This gene was added by a reviewer, and a second green review was given. Two case reports in the literature/OMIM for different variants.

Created: 9 May 2016, 9:56 a.m.