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  2. Early onset dystonia
  3. GNAO1
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Early onset dystonia

Gene: GNAO1

Green List (high evidence)
GNAO1 (G protein subunit alpha o1)
EnsemblGeneIds (GRCh38): ENSG00000087258
EnsemblGeneIds (GRCh37): ENSG00000087258
OMIM: 139311, Gene2Phenotype
GNAO1 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification:
Updated rating from Red to Green based on >3 independent cases of heterozygous variants in GNAO1 in NEDIM patients (MIM:617493) from recent (2016 and 2017) publications.
Created: 29 Aug 2017, 9:46 a.m.
Added 'mosaicism' tag based on PMID:26060304 who identified a heterozygous variant (R209H) in 2 brothers which was not present in either parent. The authors suggest germline mosaicism.
Created: 29 Aug 2017, 9:46 a.m.
Added to panel after new gene-disorder association reported in OMIM in June 2017 (MIM:617493) and on clinical advice from Helen Brittain.
Created: 29 Aug 2017, 9:43 a.m.

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

Phenotypes
Neurodevelopmental disorder with involuntary movements, 617493

Publications

Created: 29 Aug 2017, 9:46 a.m.

Panel version: 1.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
mosaicism
OMIM
139311
Clinvar variants
Variants in GNAO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

29 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GNAO1 was added to Early onset dystoniapanel. Sources: Other

29 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GNAO1 was created by rfoulger