TUBB4A:Ensemblv115

tubulin beta 4A class IVa
OMIM: 602662, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red TUBB4A in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

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

Green TUBB4A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Dystonia 4, torsion, autosomal dominant, OMIM #128101
  • Leukodystrophy, hypomyelinating, 6, OMIM # 612438

Green TUBB4A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, OMIM # 612438

Green TUBB4A in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TUBB4A in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TUBB4A in Dystonia - isolated/combined


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • hereditary whispering dysphonia
  • Dystonia 4, torsion, autosomal dominant, 128101
  • Dystonia

Green TUBB4A in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM# 612438

Green TUBB4A in Leukodystrophy - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM#612438

Amber TUBB4A in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert list
  • Expert Review Amber
Phenotypes
  • ataxia
  • Leukodystrophy, hypomyelinating, 612438 AD
  • Dystonia 4, torsion, autosomal dominant, 128101

Green TUBB4A in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM# 612438

Green TUBB4A in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM# 602662