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Red cell disorders

Gene: CDAN1

Green List (high evidence)
CDAN1 (codanin 1)
EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 anaemia, congenital, type Ia, 224120

Publications

Created: 30 Jul 2020, 11:24 p.m.
Last Modified: 30 Jul 2020, 11:24 p.m.
Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyserythropoietic anaemia, congenital, type Ia, 224120
OMIM
607465
Clinvar variants
Variants in CDAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdan1 has been classified as Green List (High Evidence).

5 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120 to Dyserythropoietic anaemia, congenital, type Ia, 224120

5 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDAN1 were set to 16098079; 12434312

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia; 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDAN1 was added gene: CDAN1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDAN1 were set to 16098079; 12434312 Phenotypes for gene: CDAN1 were set to 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Dyserythropoietic anemia, congenital, type Ia