CANT1

calcium activated nucleotidase 1
OMIM: 613165, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CANT1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	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
Red CANT1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Desbuquois dysplasia 1, MIM#251450
Green CANT1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desbuquois dysplasia 1 MIM#251450 Epiphyseal dysplasia, multiple, 7, MIM# 617719
Green CANT1 in Short Long Bones with Advanced Carpal Bone Age Level 2: Skeletal disorders Version 0.1	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CANT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Desbuquois dysplasia 1, MIM# 251450
Green CANT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes multiple epiphyseal dysplasia type 7, 617719. Desbuquois dysplasia 1 251450
Green CANT1 in Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory NHS GMS Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes multiple epiphyseal dysplasia type 7, 617719. Desbuquois dysplasia 1 251450
Amber CANT1 in Multiple epiphyseal dysplasia and pseudoachondroplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes multiple epiphyseal dysplasia type 7, 617719. Desbuquois dysplasia 1 251450
Green CANT1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia, 251450 (3)
Red CANT1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	Unknown	Sources Expert Review Red Phenotypes DBQD1 DESBUQUOIS DYSPLASIA 1
Green CANT1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Desbuquois dysplasia 1, MIM# 251450
Green CANT1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia, 251450 (3)
Green CANT1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia, 251450 (3)