PanelApp
  1. Genes and Genomic Entities
  2. TUBA1A

TUBA1A

tubulin alpha 1a
OMIM: 602529, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green TUBA1A in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Lissencephaly 3, MIM#611603

    Green TUBA1A in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.202

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Green TUBA1A in Tubulinopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.2

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Red TUBA1A in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.92

    		1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603

    Green TUBA1A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.405

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603
    • Cerebral palsy

    Green TUBA1A in Mendeliome


    Version 1.3795

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603
    • Congenital fibrosis of the extraocular muscles, AD

    Green TUBA1A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.307

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603

    Green TUBA1A in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.578

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TUBA1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Lissencephaly 3, MIM# 611603

    Red TUBA1A in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, 611603

    Green TUBA1A in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.14

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related

    Green TUBA1A in Fetal anomalies


    Version 1.481

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Lissencephaly 3, MIM# 611603