Cytopenias and congenital anaemias
Gene: CDAN1
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, 1:50 p.m. | Last Modified: 30 Jul 2020, 1:50 p.m.
Panel Version: 1.73
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type Ia, 224120
Publications
Comment when marking as ready: Sufficient evidenceCreated: 28 Feb 2017, 1:16 p.m.
Above PMID demonstrates 12 mutations in 9 families. Phenotype includes anaemia, of variable age of onset. Considered appropriate for inclusion.Created: 20 Feb 2017, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type Ia 224120
Publications
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
Publications for gene: CDAN1 were set to 12434312
Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia 224120
Publications for CDAN1 were set to 12434312
This gene has been classified as Green List (High Evidence).
CDAN1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
CDAN1 was created by LouiseD