Fetal hydrops
Gene: CDAN1EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 5 panels
3 reviews
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)Created: 11 Apr 2024, 4:13 p.m. | Last Modified: 11 Apr 2024, 4:13 p.m.
Panel Version: 1.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
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)
Can present with fetal hydrops.
Sources: Expert listCreated: 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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdan1 has been classified as Green List (High Evidence).
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
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