Fetal hydrops
Gene: CDAN1Comment 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
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
Gene: cdan1 has been classified as Green List (High Evidence).
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
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