Clefting
Gene: CANT1
CANT1 (calcium activated nucleotidase 1)
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000171302
EnsemblGeneIds (GRCh37): ENSG00000171302
OMIM: 613165, Gene2Phenotype
CANT1 is in 7 panels
1 review
Ellen McDonagh (Genomics England Curator)
Clinical features of DESBUQUOIS DYSPLASIA include Coronal cleft and Sagittal cleft of the spine - not cleft lip or palate. However, cleft palate can be a feature of Catel-Manzke syndrome - PMID 22887726 did not identify any CANT1 mutations in 3 Catel-Manzke syndrome patients. A further literature search did not identify any other publications for CANT1 and Catel-Manzke syndrome. The TGDS gene is associated with Catel-Manzke syndrome in Orphanet, and this is covered on this panel as green.Created: 31 May 2017, 1:52 p.m.
Phenotypes
DESBUQUOIS DYSPLASIA 1; DBQD1
Publications
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- DESBUQUOIS DYSPLASIA 1
- DBQD1
- OMIM
- 613165
- Clinvar variants
- Variants in CANT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CANT1 was created by ellenmcdonagh
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CANT1 was added to Cleftingpanel. Sources: Expert Review Red