1. Genes and Genomic Entities
  2. TUBA4A

TUBA4A

tubulin alpha 4a
OMIM: 191110, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
No list TUBA4A in Congenital myopathy


Level 2: Neurology
Version 7.36
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • NHS GMS
    Amber TUBA4A in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.14
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Macrothrombocytopenia
    Amber TUBA4A in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 5.2
    Latest signed off version: v5.0 (6 May 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • autosomal dominant macrothrombocytopenia, MONDO:0015372
    Green TUBA4A in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
    • amyotrophic lateral sclerosis type 22, MONDO:0014531
    Green TUBA4A in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
    • amyotrophic lateral sclerosis type 22, MONDO:0014531
    Green TUBA4A in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
    • amyotrophic lateral sclerosis type 22, MONDO:0014531