Osteogenesis imperfecta
Gene: EXT1
EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels
3 reviews
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Likely inborn error of metabolism
- Kleine-Levin syndrome
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Adult solid tumours for rare disease
- Paroxysmal central nervous system disorders
- Multiple exostoses
- Congenital disorders of glycosylation
- Sarcoma susceptibility
- Fetal anomalies
- DDG2P
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: EXT1.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 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)EXT1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory