TUBB

Red TUBB in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

Sources

• Yorkshire and North East GLH
• NHS GMS
• Expert Review Red
• UKGTN

Phenotypes

• Cerebral Malformation Disorders

Red TUBB in Ataxia and cerebellar anomalies - narrow panel

Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

Sources

• Expert Review Red

Phenotypes

• Cortical dysplasia, complex, with other brain malformations 6, 615771

Green TUBB in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• UKGTN
• Other

Phenotypes

• Cortical dysplasia, complex, with other brain malformations 6, 615771

Red TUBB in Cerebellar hypoplasia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.63

Sources

• UKGTN
• Literature

Phenotypes

• Cortical dysplasia, complex, with other brain malformations 6, 615771

Green TUBB in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
• Circumferential Skin Creases Kunze Type

Green TUBB in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Circumferential Skin Creases Kunze Type 156610
• CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771

Green TUBB in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.70
Latest signed off version: v2.2 (4 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
• CSCSC1

Amber TUBB in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Amber
• Victorian Clinical Genetics Services

Phenotypes

• Cortical dysplasia, complex, with other brain malformations 6, 615771

Tags

• watchlist

Green TUBB in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6

Red TUBB in Hereditary ataxia - adult onset

Version 2.158
Latest signed off version: v2.13 (6 Oct 2020)

Sources

• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Complex cortical dysplasia with other brain malformations 6, 615771

Amber TUBB in Structural eye disease

Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

Sources

• NHS GMS
• Expert Review Amber
• London North GLH

Phenotypes

• Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610

Green TUBB in Severe Paediatric Disorders

Version 1.127

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Symmetric circumferential skin creases, congenital, 1, 156610
• Cortical dysplasia, complex, with other brain malformations 6, 615771