TWIST1

twist family bHLH transcription factor 1
OMIM: 601622, Gene2Phenotype

9 panels

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


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 4.16
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 1.15
    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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.178
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green TWIST1 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Saethre-Chotzen syndrome with or without eyelid anomalies, 101400
    • Sweeney-Cox syndrome, 617746
    • Robinow-Sorauf syndrome, 180750
    • Craniosynostosis 1, 123100