Bone Marrow Failure

Gene: CDAN1

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyserythropoietic anemia, congenital, type Ia

Publications

• 32518175

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

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, 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

• 32518175