Clefting disorders
Gene: CANT1
CANT1 (calcium activated nucleotidase 1)
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- DBQD1
- DESBUQUOIS DYSPLASIA 1
- OMIM
- 613165
- Clinvar variants
- Variants in CANT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal Dysplasia_Fetal
- Mackenzie's Mission_Reproductive Carrier Screening
- Short Long Bones with Advanced Carpal Bone Age
- Skeletal dysplasia
- Multiple epiphyseal dysplasia and pseudoachondroplasia
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Multiple joint dislocations and laxity
- Mendeliome
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CANT1 was added gene: CANT1 was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: CANT1 was set to Unknown Publications for gene: CANT1 were set to 27881841 Phenotypes for gene: CANT1 were set to DBQD1; DESBUQUOIS DYSPLASIA 1