TUBA4A

tubulin alpha 4a
OMIM: 191110, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TUBA4A in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Green TUBA4A in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Amber TUBA4A in Incidentalome Version 0.368	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Green TUBA4A in Mendeliome Version 1.3795	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital myopathy 26, MIM# 621225 Hereditary ataxia MONDO:0100309, TUBA4A-related Oocyte/zygote/embryo maturation arrest 23, MIM# 621231
Amber TUBA4A in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.112 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital myopathy 26, MIM# 621225
Green TUBA4A in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.158 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spastic ataxia 11, autosomal dominant, MIM# 621226
Green TUBA4A in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.129 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related
Green TUBA4A in Infertility and Recurrent Pregnancy Loss Version 1.56	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oocyte/zygote/embryo maturation arrest 23, MIM# 621231