KLF1

Kruppel like factor 1
OMIM: 600599, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green KLF1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
  • MONDO:0013355

Green KLF1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital Dyserythropoietic Anemia Type IV, MIM#613673
  • severe nonspherocytic hemolytic anemia

Green KLF1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
  • MONDO:0013355

Green KLF1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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

Green KLF1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV MIM#613673

Green KLF1 in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0013355
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673

Red KLF1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

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