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  2. Congenital anaemias
  3. KLF1
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Congenital anaemias

Gene: KLF1

Green List (high evidence)
KLF1 (Kruppel like factor 1)
EnsemblGeneIds (GRCh38): ENSG00000105610
EnsemblGeneIds (GRCh37): ENSG00000105610
OMIM: 600599, Gene2Phenotype
KLF1 is in 7 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Bloodgroup‐‐Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673
  • Bloodgroup Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Congenital anaemiaspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

KLF1 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

KLF1 was added to Congenital anaemiaspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KLF1 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services