Non-Fanconi anaemia
Gene: KLF1
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:14 a.m.
Comment on list classification: Kept rating as Green: Green expert review, confirmed DD-G2P gene for Dyserythropoietic anemia (MIM:613673). 2 unrelated anemia patients with KLF1 E325K variant recorded on OMIM plus additional cases from literature (including PMID:28265383).Created: 4 May 2017, 10:02 a.m.
Comment on mode of inheritance: Monoallelic MOI confirmed by OMIM and G2P.Created: 4 May 2017, 9:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital dyserythropoietic anaemia type IV
This gene has been classified as Green List (High Evidence).
Publications for KLF1 were set to 28265383
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for KLF1 were set to Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673
Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KLF1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
KLF1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen