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Intellectual disability

Gene: TUBG1

Green List (high evidence)

TUBG1 (tubulin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000131462
EnsemblGeneIds (GRCh37): ENSG00000131462
OMIM: 191135, Gene2Phenotype
TUBG1 is in 6 panels

1 review

Konstantinos Varvagiannis (Other)

Green List (high evidence)

PMID: 29706637 reports on 8 subjects and provides a review of the 3 previously published patients (from PMID: 23603762) with TUBG1 variants. These individuals presented with a rather consistent phenotype including pachygyria with posterior to anterior gradient (10/11 - agyria in one case) and associated moderate to severe intellectual disability and seizures. Almost all cases for which parental DNA was available, were due to de novo missense SNVs, while in 2 siblings the variant was inherited by a parent with (presumed) germline mosaicism. There was a recurrent variant [NM_001070.4:c.776C>T (p.Ser259Leu)] found in 5 individuals of this cohort (including the 2 siblings).

PMID: 29671837 shares the same authors with 29706637 and was not considered.
Created: 13 Aug 2018, 10:15 p.m.

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

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, 615412
OMIM
191135
Clinvar variants
Variants in TUBG1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

TUBG1 was added to Intellectual disability panel. Sources: Literature

13 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

TUBG1 was created by Konstantinos Varvagiannis