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Cytopenias and congenital anaemias

Gene: CDAN1

Green List (high evidence)

CDAN1 (codanin 1)
EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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

Helen Brittain (Genomics England Curator)

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia 224120
OMIM
607465
Clinvar variants
Variants in CDAN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia 224120

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for CDAN1 were set to 12434312

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

CDAN1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CDAN1 was created by LouiseD