Anaemias and red cell disorders
Gene: CDAN1EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 5 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital dyserythropoietic anemia (CDA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- UKGTN
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Congenital Dyserythropoietic Anemia
- Anemia,congenitaldyserythropoietic,typeI,224120
- ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
- OMIM
- 607465
- Clinvar variants
- Variants in CDAN1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)CDAN1 was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)CDAN1 was created by ellenmcdonagh