ACTG1

actin gamma 1
OMIM: 102560, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green ACTG1 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.5
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Baraitser Winter Syndrome
    Green ACTG1 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.49

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Baraitser-Winter syndrome 2, 614583
    Green ACTG1 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARAITSER-WINTER SYNDROME
    Green ACTG1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Baraitser-Winter syndrome 2, OMIM:614583
    Tags
    • missense
    Green ACTG1 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARAITSER-WINTER SYNDROME
    Green ACTG1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss
    • Deafness, autosomal dominant 20/26, 604717
    • Baraitser-Winter syndrome 2, 614583
    • #604717
    • Hearing loss, sensorineural, bilateral, progressive
    • Hearing loss begins with loss of high frequencies
    • Audiogram shows sloping configuration
    • Deafness, profound, by 6th decade
    • Trigonocephaly/metopic ridge
    • Prominent/full/wide cheeks
    • Pointed chin
    • Retrognathia (in some patients)
    • Abnormally shaped ears
    • Deafness (in some patients)
    • Microphthalmia (in some patients)
    • Arched eyebrows
    • Long palpebral fissures
    • Eye coloboma (in some patients)
    • Hypertelorism/telecanthus
    • Ptosis
    • Short, upturned nose
    • Large, squared nose tip
    • Prominent nasal root on profile
    • Thick/prominent/everted lower lipCleft lip/palate (in some patients)
    • Long philtrum
    • Thin upper lip
    • Large mouth
    • Short neck (in some patients)
    • Pterygium colli (in some patients)
    • Heart defect (in some patients)
    • Kyphosis/scoliosis (in some patients)
    • Pectus (in some patients)
    • Enlarged ventricles (in some patients)
    • Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)
    • Epilepsy
    Green ACTG1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • BARAITSER-WINTER SYNDROME 2
    • BRWS2
    Green ACTG1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583
    • BARAITSER-WINTER SYNDROME
    Green ACTG1 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Baraitser-Winter syndrome 2, 614583
    Green ACTG1 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Baraitser-Winter syndrome 2, 614583
    • Deafness, autosomal dominant 20/26, 604717