TUBA4A:Ensemblv115

tubulin alpha 4a
OMIM: 191110, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TUBA4A in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
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 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

Amber TUBA4A in Incidentalome


Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

Amber TUBA4A in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Congenital myopathy 26, MIM# 621225

Green TUBA4A in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Spastic ataxia 11, autosomal dominant, MIM# 621226

Green TUBA4A in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Spastic ataxia 11, autosomal dominant, MIM# 621226

Green TUBA4A in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Spastic ataxia 11, autosomal dominant, MIM# 621226

Green TUBA4A in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hereditary ataxia MONDO:0100309, TUBA4A-related