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  3. KLF1
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Anaemias and red cell disorders

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

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

History Filter Activity

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KLF1 was created by ellenmcdonagh

22 Jul 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Anaemias and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen