Familial Hirschsprung Disease
Gene: TUBA1AEnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked TUBA1A as ready: August 3rd 2017. Red review plus insufficient evidence for role of TUBA1A in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 3:10 p.m.
PMID:23528852 describe an 8-yr old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel heterozygous mutation in the TUBA1A gene c.599G→A (p.Cys402Tyr). The patient developed Hirschsprung disease.Created: 5 Jun 2017, 1:56 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- lissencephaly and Hirschsprung disease
- OMIM
- 602529
- Clinvar variants
- Variants in TUBA1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Cerebellar hypoplasia
- Inherited white matter disorders
- Familial Hirschsprung Disease
- Cerebral vascular malformations
- Malformations of cortical development
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)TUBA1A was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)TUBA1A was added to Familial Hirschsprung Diseasepanel. Sources: Literature