GNB1:Ensemblv90

G protein subunit beta 1
OMIM: 139380, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green GNB1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral Palsy
  • Mental retardation, autosomal dominant 42 MIM# 616973

Green GNB1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.73

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

Green GNB1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 42, MIM# 616973

Green GNB1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

    Green GNB1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, autosomal dominant 42, MIM# 616973

    Green GNB1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Mental retardation, autosomal dominant 42, MIM# 616973
    • Myoclonus dystonia

    Green GNB1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

    Green GNB1 in Fetal anomalies


    Version 1.482

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
    • intellectual disability, autosomal dominant 42 MONDO:0014855

    Red GNB1 in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

    Green GNB1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Cerebral Palsy
    • Mental retardation, autosomal dominant 42 MIM# 616973

    Green GNB1 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

    Green GNB1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

    Green GNB1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 42, MIM# 616973
    • Myoclonus dystonia

    Green GNB1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

    Green GNB1 in Fetal anomalies


    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
    • intellectual disability, autosomal dominant 42 MONDO:0014855

    Red GNB1 in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review
    • Expert Review Red
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 42, MIM# 616973