This Panel is marked as Internal
Other 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
1 review
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
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mulibrey nanism, 253250
- Mulibrey Nanism
- OMIM
- 605073
- Clinvar variants
- Variants in TRIM37
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Clefting
- Monogenic short stature
- Childhood onset dystonia, chorea or related movement disorder
- Peroxisomal disorders
- Osteogenesis imperfecta
- Intellectual disability
- Likely inborn error of metabolism
- Embryonal tumour of possible germline origin
- IUGR and IGF abnormalities
- Undiagnosed metabolic disorders
- DDG2P
History Filter Activity
7 Aug 2015, Gel status: 2
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene TRIM37 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)TRIM37 was added to Other peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TRIM37 was added to Other peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen