1. Genes and Genomic Entities
  2. SETBP1

SETBP1

SET binding protein 1
OMIM: 611060, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SETBP1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Green SETBP1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY
  • SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Green SETBP1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY
    • SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150
    Green SETBP1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078
    • Schinzel-Giedion midface retraction syndrome, OMIM: 269150
    • Schinzel-Giedion syndrome, MONDO:0010010
    Green SETBP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078
    • Schinzel-Giedion midface retraction syndrome, OMIM: 269150
    • Schinzel-Giedion syndrome, MONDO:0010010