TUBA4A

tubulin alpha 4a
OMIM: 191110, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red TUBA4A in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

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 8.23
Latest signed off version: v8.0 (30 Apr 2025)

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