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Fetal anomalies

Gene: TUBA1A

Green List (high evidence)

TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 12 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterised by complex brain malformations including lissencephaly in combination with polymicrogyria, corpus callosal abnormalities and cerebellar hypoplasia
Created: 6 Jan 2022, 1:06 a.m. | Last Modified: 6 Jan 2022, 1:06 a.m.
Panel Version: 0.1867

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lissencephaly 3, MIM# 611603

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Lissencephaly 3, MIM# 611603
OMIM
602529
Clinvar variants
Variants in TUBA1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBA1A were changed from INTELLECTUAL DISABILITY; LISSENCEPHALY TYPE 3 to Lissencephaly 3, MIM# 611603

6 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBA1A were set to

6 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: tuba1a has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBA1A was added gene: TUBA1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY; LISSENCEPHALY TYPE 3