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  3. GNB2
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Sick sinus syndrome

Gene: GNB2

Red List (low evidence)
GNB2 (G protein subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172354
EnsemblGeneIds (GRCh37): ENSG00000172354
OMIM: 139390, Gene2Phenotype
GNB2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single large 3-generational family reported with a missense variant in this gene segregating with early and progressive sinus node and atrioventricular conduction dysfunction.

Note recent reports of multiple individuals with syndromic ID and mono-allelic variants in this gene.
Sources: Expert list
Created: 1 Aug 2021, 5:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sick sinus syndrome 4, MIM# 619464

Publications

Created: 1 Aug 2021, 5:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Sick sinus syndrome 4, MIM# 619464
OMIM
139390
Clinvar variants
Variants in GNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb2 has been classified as Red List (Low Evidence).

1 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNB2 was added gene: GNB2 was added to Sick sinus syndrome. Sources: Expert list Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB2 were set to 28219978 Phenotypes for gene: GNB2 were set to Sick sinus syndrome 4, MIM# 619464 Review for gene: GNB2 was set to RED