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Fetal anomalies

Gene: TUBG1

Green List (high evidence)
TUBG1 (tubulin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000131462
EnsemblGeneIds (GRCh37): ENSG00000131462
OMIM: 191135, Gene2Phenotype
TUBG1 is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple patients reported with cortical malformations (pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles most pronounced over the posterior horns, and variable degrees of reduced white matter volume), and heterozygous mutations in TUBG1 gene. In vitro functional expression studies of some of the mutations suggested that they caused defects in mitotic microtubule organization. Knockdown of Tubg1 in mouse embryos altered cortical radial neuronal migration, with an arrest of migrating cells in the subventricular and intermediate zone and impaired migration to the cortical plate.

Suitable for fetal anomalies panel.
Created: 13 Jan 2022, 5:22 a.m. | Last Modified: 13 Jan 2022, 5:22 a.m.
Panel Version: 0.2003

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412

Publications

Created: 13 Jan 2022, 5:22 a.m.
Last Modified: 13 Jan 2022, 5:22 a.m.
Panel version: 0.2003

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412
OMIM
191135
Clinvar variants
Variants in TUBG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubg1 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBG1 were changed from Posteriorly predominant pachygyria and severe microcephaly to Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tubg1 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBG1 was added gene: TUBG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBG1 were set to 27010057; 23603762 Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly