IBMDx study
Gene: KLF1
Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.Created: 5 Oct 2024, 11:14 a.m. | Last Modified: 5 Oct 2024, 11:14 a.m.
Panel Version: 0.25
Congenital dyserythropoietic anaemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and haemolysis resulting in anaemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal haemoglobin.
Multiple affected individuals reported.Created: 17 Jun 2021, 10:19 p.m. | Last Modified: 17 Jun 2021, 10:19 p.m.
Panel Version: 0.277
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Publications
Gene: klf1 has been classified as Green List (High Evidence).
Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Publications for gene: KLF1 were set to
Mode of inheritance for gene: KLF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: KLF1 was added gene: KLF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: KLF1 was set to Unknown Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673