Genomics England
GMS Panels
Panels
Genes and Entities

TUBA1A

tubulin alpha 1a
OMIM: 602529
PanelMode of inheritanceDetails
7 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 3 6,1603
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LISSENCEPHALY TYPE 3 611603, INTELLECTUAL DISABILITY
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 3, 611603
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY, LISSENCEPHALY TYPE 3
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 3, 611603
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 3, 611603, INTELLECTUAL DISABILITY
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
  • - Paediatric disorders
Signed-off version 8.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 3 611603