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  2. Hereditary Neuropathy_CMT - isolated
  3. TRIM2
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Hereditary Neuropathy_CMT - isolated

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, functional data including animal models.
Created: 11 May 2021, 10:54 a.m. | Last Modified: 11 May 2021, 10:54 a.m.
Panel Version: 0.153

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208

Publications

Created: 11 May 2021, 10:54 a.m.
Last Modified: 11 May 2021, 10:54 a.m.
Panel version: 0.153

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, MIM# 615490
  • MONDO:0014208
  • HMSN
OMIM
614141
Clinvar variants
Variants in TRIM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIM2 were changed from Charcot-Marie-Tooth disease, type 2R, 615490; HMSN to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN

11 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIM2 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TRIM2 was added gene: TRIM2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490; HMSN