KLF1

Kruppel like factor 1
OMIM: 600599, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green KLF1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, OMIM:613673
  • Hydrops Fetalis
Green KLF1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Green KLF1 in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Green KLF1 in Cytopenia - NOT Fanconi anaemia


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Green KLF1 in Fetal anomalies


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, OMIM:613673
  • Hydrops Fetalis
Green KLF1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673
    Red KLF1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Blood group--Lutheran inhibitor, 111150
    • [Hereditary
    • persistence of fetal hemoglobin], 613566
    • Dyserythropoietic anemia, congenital, type IV, 613673
    Green KLF1 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Blood group--Lutheran inhibitor, 111150
    • Dyserythropoietic anemia, congenital, type IV, 613673