Skeletal dysplasia
Gene: CANT1

CANT1 (calcium activated nucleotidase 1)
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR. 251450 Listed in Dysplasias with multiple joint dislocations gp of SD. Multiple cases reported. 617719 not listed in SD nosology paper - 2 cases reported so far. Green for 251450. Amber for 617719.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719.

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CANT1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in this phenotype
Created: 11 Jul 2016, 12:02 p.m.

Created: 11 Jul 2016, 12:02 p.m.

Panel version: 0.409

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 1 251450

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:02 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Expert list
Emory Genetics Laboratory

Phenotypes

Desbuquois dysplasia 1 251450
multiple epiphyseal dysplasia type 7, 617719.

OMIM

613165

Clinvar variants

Variants in CANT1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719. for gene: CANT1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CANT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4