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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. CANT1
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: CANT1

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

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Desbuquois dysplasia 1 251450
  • multiple epiphyseal dysplasia type 7, 617719.
OMIM
613165
Clinvar variants
Variants in CANT1
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CANT1 was added gene: CANT1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719.