Bone Marrow Failure
Gene: KLF1
Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.Created: 5 Oct 2024, 8:01 a.m. | Last Modified: 5 Oct 2024, 8:01 a.m.
Panel Version: 1.98
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 IVa, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Publications
Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881
Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: klf1 has been classified as Green List (High Evidence).
Phenotypes for gene: KLF1 were changed from to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
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 Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLF1 was set to Unknown