Peroxisomal disorders

Gene: TRIM37

Green List (high evidence)

TRIM37 (tripartite motif containing 37)
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least seven variants reported patients from Finland, USA, Turkey and Czech Republic.
Created: 23 Aug 2016, 7:56 a.m.

Helen Savage (Congenica Ltd)

I don't know

Majority of patients are from the Finnish population. Not many reports in the literature.
Created: 23 Feb 2016, 2:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mulibrey nanism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mulibrey nanism 253250
OMIM
605073
Clinvar variants
Variants in TRIM37
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TRIM37 were set to 17100991

23 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

TRIM37 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory

23 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene TRIM37 were set to Mulibrey nanism 253250

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TRIM37 was created by sleigh

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TRIM37 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services