Osteogenesis imperfecta
Gene: CANT1
CANT1 (calcium activated nucleotidase 1)
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 7 panels
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
There is insufficient evidence at present to support a causal role of this gene in this particular diseaseCreated: 8 Oct 2015, 8:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 613165
- Clinvar variants
- Variants in CANT1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CANT1.
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)CANT1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory