Genomics England
GMS Panels
Panels
Genes and Entities

TUBB3

tubulin beta 3 class III
OMIM: 602661
PanelMode of inheritanceDetails
7 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 1 614039
Green
in Congenital fibrosis of the extraocular muscles
R-numbers: R46
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CFEOM3A, Fibrosis of extraocular muscles, congenital, 3A 600638
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 1, 614039
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Complex cortical dysplasia with other brain abnormalities 1, 614039
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 1 614039