Multiple epiphyseal dysplasia and pseudoachondroplasia
Gene: CANT1EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 13 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
CANT1 is typically associated with Desbuquois syndrome, but Balasubramaniam et al identified biallelic variants in two brothers with MED, mild short stature, Swedish key appearance of proximal femur, but normal hands and no joint dislocations. Sequencing of 4 unrelated individuals identified 1 with MED and homozygosity for a CANT1 variant previously identified in Jap/Kor patients with Desbuquois (Kim variant). Total - 2 unrelated families without functional studiesCreated: 26 May 2020, 12:23 p.m. | Last Modified: 26 May 2020, 12:23 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple epiphyseal dysplasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- 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
-
- 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
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Multiple joint dislocations and laxity
- Mendeliome
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: cant1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: cant1 has been classified as Green List (High Evidence).
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 epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450