TBP

TATA-box binding protein
OMIM: 600075, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

No list TBP in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 17
  • Parkinsonism
  • Chorea
  • Seizures
  • Psychosis
  • Dementia
  • OMIM 607136
Tags
  • STR

No list TBP in Mendeliome


Version 2.0

1 review Unknown
Sources
  • Expert Review Removed
  • Expert list
  • Victorian Clinical Genetics Services
Tags
  • STR

No list TBP in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review Unknown
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services

Green TBP_SCA17_CAG STR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136

Green TBP_SCA17_CAG STR in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136

Green TBP_SCA17_CAG STR in Mendeliome


Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136

Green TBP_SCA17_CAG STR in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136

Green TBP_SCA17_CAG STR in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • STR

Green TBP_SCA17_CAG STR in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • adult-onset
  • paediatric-onset

Green TBP_SCA17_CAG STR in Repeat Disorders


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • adult-onset
  • paediatric-onset