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Intellectual disability syndromic and non-syndromic

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)

Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. 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, 8:35 a.m. | Last Modified: 5 Sep 2020, 8:35 a.m.
Panel Version: 0.2961

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 42, MIM# 616973

Publications

Details

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

History Filter Activity

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 to Mental retardation, autosomal dominant 42, MIM# 616973

5 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNB1 were set to

5 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNB1 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: GNB1 was added gene: GNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNB1 was set to Unknown