Osteogenesis imperfecta
Gene: TRIM37
TRIM37 (tripartite motif containing 37)
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 13 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 605073
- Clinvar variants
- Variants in TRIM37
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Clefting
- Monogenic short stature
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- Childhood solid tumours
- DDG2P
- IUGR and IGF abnormalities
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TRIM37.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM37 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory