Hydrops fetalis
Gene: KLF1
Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia. Can present with hydrops.Created: 5 Oct 2024, 8:06 a.m. | Last Modified: 5 Oct 2024, 8:06 a.m.
Panel Version: 0.321
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Publications
Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Publications for gene: KLF1 were set to 29300242; 25724378; 28265383
Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: klf1 has been classified as Green List (High Evidence).
Publications for gene: KLF1 were set to 29300242; 25724378; 28265383
Phenotypes for gene: KLF1 were changed from to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia
Publications for gene: KLF1 were set to
Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: KLF1 was added gene: KLF1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLF1 was set to Unknown