Congenital anaemias
Gene: CDAN1EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 5 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Phenotypes
-
- Congenital Dyserythropoietic Anemia
- Anemia,congenitaldyserythropoietic,typeI,224120
- OMIM
- 607465
- Clinvar variants
- Variants in CDAN1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CDAN1 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CDAN1 was added to Congenital anaemiaspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CDAN1 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)CDAN1 was added to Congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()CDAN1 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CDAN1 was added to Congenital anaemiaspanel. Sources: UKGTN
Added New Source
GEL ()CDAN1 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services