TUBG1:Ensemblv115

tubulin gamma 1
OMIM: 191135, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TUBG1 in Tubulinopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412

Red TUBG1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, MIM#615412

Green TUBG1 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
  • Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412

Green TUBG1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TUBG1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • complex cortical dysplasia with other brain malformations 4 MONDO:0014171

Green TUBG1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412