TBP

TATA-box binding protein
OMIM: 600075, Gene2Phenotype

22 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 22 panels
Red TBP in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	Other	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red TBP in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	Other	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red TBP in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	Other	Sources Expert Review Red Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red TBP in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	Other	Sources Expert Review Red NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red TBP in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	Other	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red TBP in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Other	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red TBP in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	Other	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red TBP in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Green TBP in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, 607136
Green TBP_CAG STR in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green TBP_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green TBP_CAG STR in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Amber TBP_CAG STR in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR watchlist
Green TBP_CAG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Red TBP_CAG STR in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green TBP_CAG STR in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Amber TBP_CAG STR in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Green TBP_CAG STR in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Green TBP_CAG STR in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green TBP_CAG STR in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Green TBP_CAG STR in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green TBP_CAG STR in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR

TBP

22 panels

Red TBP in Parkinson Disease and Complex Parkinsonism

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Phenotypes

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Red TBP in Ataxia and cerebellar anomalies - narrow panel

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Phenotypes

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Red TBP in Hereditary ataxia

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Phenotypes

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Red TBP in Paroxysmal central nervous system disorders

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Phenotypes

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Red TBP in Adult onset neurodegenerative disorder

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Phenotypes

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Red TBP in Intellectual disability - microarray and sequencing

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Phenotypes

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Red TBP in Hereditary ataxia with onset in adulthood

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Phenotypes

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Red TBP in Adult onset dystonia, chorea or related movement disorder

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Phenotypes

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Green TBP in Severe Paediatric Disorders

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Phenotypes

Green TBP_CAG STR in Parkinson Disease and Complex Parkinsonism

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Phenotypes

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Green TBP_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

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Phenotypes

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Green TBP_CAG STR in Brain channelopathy

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Phenotypes

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Amber TBP_CAG STR in Ataxia and cerebellar anomalies - narrow panel

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Phenotypes

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Green TBP_CAG STR in Hereditary ataxia

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Phenotypes

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Red TBP_CAG STR in Paroxysmal central nervous system disorders

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Phenotypes

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Green TBP_CAG STR in Hereditary spastic paraplegia

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Amber TBP_CAG STR in Childhood onset hereditary spastic paraplegia

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Green TBP_CAG STR in Adult onset hereditary spastic paraplegia

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Green TBP_CAG STR in Adult onset neurodegenerative disorder

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Phenotypes

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Green TBP_CAG STR in Hereditary ataxia with onset in adulthood

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Phenotypes