1. Panels
  2. Skeletal Dysplasia_Fetal
  3. CANT1
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal Dysplasia_Fetal

Gene: CANT1

Green List (high evidence)
CANT1 (calcium activated nucleotidase 1)
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe skeletal dysplasia, prenatal onset of features.
Created: 1 Feb 2020, 12:25 a.m. | Last Modified: 9 Dec 2021, 8:11 a.m.
Panel Version: 0.1160

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 1, MIM# 251450

Created: 1 Feb 2020, 12:25 a.m.
Last Modified: 9 Dec 2021, 8:11 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1160

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Desbuquois dysplasia 1, MIM# 251450
OMIM
613165
Clinvar variants
Variants in CANT1
Penetrance
None
Panels with this gene

History Filter Activity

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cant1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450

10 Nov 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CANT1 was added gene: CANT1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CANT1 was set to Unknown