Hydrops fetalis
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hydrops is a rare manifestation reported in Debuquois dysplasia, two families.
Sources: Expert listCreated: 30 Dec 2019, 1:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1, MIM#251450
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Desbuquois dysplasia 1, MIM#251450
- OMIM
- 613165
- Clinvar variants
- Variants in CANT1
- Penetrance
- None
- Publications
- 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
30 Dec 2019, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cant1 has been classified as Red List (Low Evidence).
30 Dec 2019, 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 Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CANT1 were set to 21654728; 20358610 Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, MIM#251450 Review for gene: CANT1 was set to RED