Genes in panel

Hereditary neuropathy

Gene: TRIM2

Red List (low 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

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
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, 615490
OMIM
614141
Clinvar variants
Variants in TRIM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2R, 615490 for gene: TRIM2 Publications for gene TRIM2 were changed from Charcot-Marie-Tooth disease, type 2R to 23562820; 25893792; 18687884

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TRIM2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TRIM2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TRIM2.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TRIM2 were set to Charcot-Marie-Tooth disease, type 2R

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

TRIM2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

TRIM2 was created by MReilly-925