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 5.8
Latest signed off version: v5.0 (7 Aug 2024)

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 7.20
Latest signed off version: v7.0 (30 Apr 2025)

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 1.16
    Latest signed off version: v1.2 (13 Feb 2020)

    		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 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    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 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
    • SAETHRE-CHOTZEN SYNDROME
    • CRANIOSYNOSTOSIS, TYPE 1
    Green TWIST1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 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
    • CRANIOSYNOSTOSIS, TYPE 1 123100
    • SAETHRE-CHOTZEN SYNDROME 101400
    Green TWIST1 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
    Phenotypes
    • SAETHRE-CHOTZEN SYNDROME