Fetal hydrops

Gene: CDAN1

Green List (high evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Fetal-onset congenital dyserythropoietic anemia type 1 due to biallelic CDAN1 variants can present in utero with hydrops fetalis. Sufficient cases to ascertain causation.
Created: 2 Mar 2021, 10:31 a.m. | Last Modified: 2 Mar 2021, 10:31 a.m.
Panel Version: 1.25

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Can present with fetal hydrops.
Sources: Expert list
Created: 30 Dec 2019, 4:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyserythropoietic anaemia, congenital, type Ia, MIM#224120

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
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
  • Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
OMIM
607465
Clinvar variants
Variants in CDAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

2 Mar 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135

30 Dec 2019, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CDAN1 was added gene: CDAN1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085 Phenotypes for gene: CDAN1 were set to Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 Review for gene: CDAN1 was set to GREEN gene: CDAN1 was marked as current diagnostic