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Malformations of cortical development

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

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: 3 unrelated patients and mouse model
Created: 19 Dec 2016, 10:56 a.m.
Not recognised on G2P but offered on UKGTN and mentioned in GeneReview. Mutations found in three unrelated individuals
Created: 19 Dec 2016, 10:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 19 Dec 2016, 10:55 a.m.

Panel version: 1.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4 615412
OMIM
191135
Clinvar variants
Variants in TUBG1
Penetrance
Complete
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

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TUBG1 were set to Cortical dysplasia, complex, with other brain malformations 4 615412

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TUBG1 were set to 23603762;27010057

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

TUBG1 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

22 Nov 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

11 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TUBG1 was added to Malformations of cortical developmentpanel. Sources: Other

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBG1 was created by sleigh