IBMDx study
Gene: CDAN1
CDAN1 (codanin 1)
EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 32518175 (2020) - Reported six biallelic CDAN1 variants (five in-frame and missense changes and a LOF frameshift mutation) in a cohort of patients with congenital dyserythropoietic anaemia type I (CDA-I). All variants affect conserved residues and were absent from the gnomAD database. As complete loss of Codanin-1 is incompatible with life, authors speculate that the CDAN1 variants are unlikely to cause complete LOF, but actually disrupt specific protein interactions - some functional data supportive of this.Created: 30 Jul 2020, 11:24 p.m. | Last Modified: 30 Jul 2020, 11:24 p.m.
Panel Version: 0.78
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type Ia, 224120
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dyserythropoietic anemia, congenital, type Ia, 224120
- OMIM
- 607465
- Clinvar variants
- Variants in CDAN1
- Penetrance
- None
- Panels with this gene
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDAN1 was added gene: CDAN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: CDAN1 was set to Unknown Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, 224120