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Fetal anomalies

Gene: TUBG1

Amber List (moderate evidence)

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Posteriorly predominant pachygyria and severe microcephaly
OMIM
191135
Clinvar variants
Variants in TUBG1
Penetrance
None
Panels with this gene

History Filter Activity

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