KLF1:Ensemblv90

Kruppel like factor 1
OMIM: 600599, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green KLF1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital Dyserythropoietic Anemia Type IV, MIM#613673
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in Mendeliome


    Version 1.3802

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
    • MONDO:0013355

    Green KLF1 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.39

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in Fetal anomalies


    Version 1.482

    3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV MIM#613673
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in IBMDx study


    Version 0.38

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • IBMDx Study
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Red KLF1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673

    Green KLF1 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in Red cell disorders


    Level 2: Haematological disorders
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • London South GLH
    • North West GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Green
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in Fetal anomalies


    Version 2.0

    3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV MIM#613673
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

    Green KLF1 in IBMDx study


    Version 1.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • IBMDx Study
    • Expert Review Green
    Phenotypes
    • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
    • MONDO:0013355
    • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969