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Hereditary neuropathy NOT PMP22 copy number

Gene: TRIM2

Green List (high evidence)

TRIM2 (tripartite motif containing 2)
EnsemblGeneIds (GRCh38): ENSG00000109654
EnsemblGeneIds (GRCh37): ENSG00000109654
OMIM: 614141, Gene2Phenotype
TRIM2 is in 2 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

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

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

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / Consider for Green with functional data? 2 families with missense variants; no new publications since 2015
Created: 6 Dec 2019, 2:59 p.m. | Last Modified: 6 Dec 2019, 2:59 p.m.
Panel Version: 0.38
Comment on list classification: 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, 1:25 p.m. | Last Modified: 6 Dec 2019, 1:25 p.m.
Panel Version: 0.21
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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Richard Scott (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, 615490
OMIM
614141
Clinvar variants
Variants in TRIM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trim2 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trim2 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TRIM2 was added gene: TRIM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM2 were set to 25893792; 18687884; 23562820 Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490