Osteogenesis imperfecta
Gene: TRIM37EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 14 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
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Peroxisomal disorders
- Osteogenesis imperfecta
- Monogenic short stature
- IUGR and IGF abnormalities
- Intellectual disability
- DDG2P
- Childhood solid tumours
- Undiagnosed metabolic disorders
- Clefting
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TRIM37.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM37 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory