Cytopenias and congenital anaemias
Gene: KLF1Comment on mode of inheritance: MOI was updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'. The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.Created: 1 Mar 2022, noon | Last Modified: 1 Mar 2022, noon
Panel Version: 1.100
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital dyserythropoietic anemia (CDA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KLF1 were set to 21055716
Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for KLF1 were set to Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673
Phenotypes for KLF1 were set to Congenital Dyserythropoietic Anemia; Blood group Lutheran inhibitor,111150;Dyserythropoietic anemia, congenital, type IV,613673
Publications for KLF1 were set to 21055716
KLF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
KLF1 was created by LouiseD