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Cytopenias and congenital anaemias v1.100 KLF1 Arina Puzriakova Added comment: Comment 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.
Cytopenias and congenital anaemias v1.100 KLF1 Arina Puzriakova 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
Cytopenias and congenital anaemias v1.99 KLF1 Arina Puzriakova Publications for gene: KLF1 were set to 21055716
Cytopenias and congenital anaemias v1.98 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Cytopenias and congenital anaemias KLF1 Louise Daugherty marked KLF1 as ready