Multiple joint dislocations and laxity
Gene: CANT1EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Likely the two conditions represent a spectrum of severity rather than two distinct entities.Created: 9 Dec 2021, 9:10 a.m. | Last Modified: 9 Dec 2021, 9:10 a.m.
Panel Version: 0.10177
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1 MIM#251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 613165
- Clinvar variants
- Variants in CANT1
- Penetrance
- None
- 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
Added New Source, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Source Victorian Clinical Genetics Services was added to CANT1. Added phenotypes multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450 for gene: CANT1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: CANT1 was added gene: CANT1 was added to Multiple joint dislocations and laxity. Sources: Expert list,Expert Review Green,NHS GMS,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN 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.