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  3. TUBG1
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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

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Created: 3 Mar 2022, 11:19 a.m.
Last Modified: 3 Mar 2022, 11:19 a.m.
Panel version: 1.836

Catherine Snow (Genomics England)

Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:52 p.m. | Last Modified: 1 Feb 2021, 4:52 p.m.
Panel Version: 1.557
Created: 1 Feb 2021, 4:52 p.m.
Last Modified: 1 Feb 2021, 4:52 p.m.
Panel version: 1.557

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Malformations of cortical development). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Created: 28 Jan 2021, 10:56 a.m. | Last Modified: 28 Jan 2021, 10:56 a.m.
Panel Version: 1.185

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

Phenotypes
Cortical dysplasia, complex, with other brain malformations 4

Created: 28 Jan 2021, 10:56 a.m.
Last Modified: 28 Jan 2021, 10:56 a.m.
Panel version: 1.185

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Posteriorly predominant pachygyria and severe microcephaly
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
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

27 Jul 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TUBG1 were set to 23603762; 27010057

27 Jul 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TUBG1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TUBG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to gene: TUBG1.

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: tubg1 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: TUBG1 were set to

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TUBG1 was added gene: TUBG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly