TUBA4A

tubulin alpha 4a
OMIM: 191110, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber TUBA4A in Congenital myopathy Level 2: Neurology Version 7.80 Latest signed off version: v7.77 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Congenital myopathy 26, OMIM:621225 congenital myopathy 26, MONDO:0979229 Tags Q2_26_promote_green Q2_26_NHS_review
Amber TUBA4A in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 6.18 Latest signed off version: v6.17 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital myopathy 26, OMIM:621225 congenital myopathy 26, MONDO:0979229 Tags Q2_26_promote_green
Amber TUBA4A in Bleeding and platelet disorders Level 2: Haematology Version 4.17 Latest signed off version: v4.16 (12 Aug 2026)	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 5.8 Latest signed off version: v5.7 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes autosomal dominant macrothrombocytopenia, MONDO:0015372
Green TUBA4A in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.7 Latest signed off version: v9.4 (12 Aug 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 1.75	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, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 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