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  3. GNB1
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Dystonia - complex

Gene: GNB1

Green List (high evidence)
GNB1 (G protein subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000078369
EnsemblGeneIds (GRCh37): ENSG00000078369
OMIM: 139380, Gene2Phenotype
GNB1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple reports of dystonia in this disorder. In a recent series of 18 individuals with de novo mutations, the most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.
Created: 5 Sep 2020, 8:29 a.m. | Last Modified: 5 Sep 2020, 8:29 a.m.
Panel Version: 0.92

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 42, MIM# 616973

Publications

Created: 5 Sep 2020, 8:29 a.m.
Last Modified: 5 Sep 2020, 8:29 a.m.
Panel version: 0.92

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mental retardation, autosomal dominant 42, MIM# 616973
  • Myoclonus dystonia
OMIM
139380
Clinvar variants
Variants in GNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb1 has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42; Myoclonus dystonia to Mental retardation, autosomal dominant 42, MIM# 616973; Myoclonus dystonia

5 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNB1 were set to 30194818

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GNB1 was added gene: GNB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB1 were set to 30194818 Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42; Myoclonus dystonia