1. Genes and Genomic Entities
  2. TWIST1

TWIST1

twist family bHLH transcription factor 1
OMIM: 601622, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green TWIST1 in Hydrocephalus


Level 2: Neurology
Version 5.15
Latest signed off version: v5.14 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
Green TWIST1 in Limb disorders


Level 2: Musculoskeletal
Version 9.1
Latest signed off version: v9.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Robinow-Sorauf syndrome, 180750
    • Saethre-Chotzen syndrome, 101400
    • Polydactyly
    Green TWIST1 in Common craniosynostosis syndromes


    Level 2: Musculoskeletal
    Version 1.19
    Latest signed off version: v1.18 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    Phenotypes
    • Craniosynostosis 1 OMIM:123100
    • Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
    Green TWIST1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.1
    Latest signed off version: v10.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Robinow-Sorauf syndrome 180750
    • Saethre-Chotzen syndrome 101400
    • Craniosynostosis, type 1 123100
    • Saethre-Chotzen syndrome with eyelid anomalies 101400
    Green TWIST1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SAETHRE-CHOTZEN SYNDROME
    • CRANIOSYNOSTOSIS, TYPE 1
    Green TWIST1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Saethre-Chotzen syndrome, 101400
    • Saethre-Chotzen syndrome with eyelid anomalies, 101400
    • Craniosynostosis, type 1, 123100
    • Robinow-Sorauf syndrome, 180750
    Green TWIST1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CRANIOSYNOSTOSIS, TYPE 1 123100
    • SAETHRE-CHOTZEN SYNDROME 101400
    Green TWIST1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • SAETHRE-CHOTZEN SYNDROME