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Intellectual disability syndromic and non-syndromic

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

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

29706637: 5 cases with moderate to severe ID

23603762: 3 cases with moderate to severe ID
Created: 15 Sep 2023, 1:24 a.m. | Last Modified: 15 Sep 2023, 1:24 a.m.
Panel Version: 0.5399

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex cortical dysplasia with other brain malformations 4 MONDO:0014171; lissencephaly spectrum disorders MONDO:0018838

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • complex cortical dysplasia with other brain malformations 4 MONDO:0014171
OMIM
191135
Clinvar variants
Variants in TUBG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, 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).

18 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBG1 were changed from to complex cortical dysplasia with other brain malformations 4 MONDO:0014171

18 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBG1 were set to

18 Sep 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBG1 was added gene: TUBG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBG1 was set to Unknown