Peroxisomal disorders
Gene: TRIM37
TRIM37 (tripartite motif containing 37)
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 14 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)
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
-
- IUGR and IGF abnormalities
- Clefting
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Monogenic short stature
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Osteogenesis imperfecta
- Intellectual disability
- Embryonal tumour of possible germline origin
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