Cytopenias and congenital anaemias

Gene: CDAN1

Green List (high evidence)

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

• 32518175

Green List (high evidence)

Comment when marking as ready: Sufficient evidence

Created: 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

• PMID 12434312

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital dyserythropoietic anemia (CDA)

Publications

• 12434312

Variants in this GENE are reported as part of current diagnostic practice