TUBA4A

tubulin alpha 4a
OMIM: 191110, Gene2Phenotype

3 panels

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


Version 3.33
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
No list TUBA4A in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia