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Cardiac arrhythmias - additional genes

Gene: GNB5

Green List (high evidence)
GNB5 (G protein subunit beta 5)
EnsemblGeneIds (GRCh38): ENSG00000069966
EnsemblGeneIds (GRCh37): ENSG00000069966
OMIM: 604447, Gene2Phenotype
GNB5 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 11:48 a.m. | Last Modified: 30 Jan 2023, 11:48 a.m.
Panel Version: 2.4
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated families with cardiac arrhythmia identified, which may be the main presenting feature. This also may be the most likely route for testing in some cases, particularly where no seizures and only mild cognitive impairment are observed.
Created: 7 Dec 2021, 11:30 a.m. | Last Modified: 7 Dec 2021, 11:30 a.m.
Panel Version: 1.14
Biallelic GNB5 pathogenic variants cause two relevant phenotypes: intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182).

Heart rate disturbances (in most cases reminiscent of sick sinus syndrome) have been reported as a feature of both disorders. At least 8 unrelated families with arrhythmias associated with variants in this gene reported in literature. Cardiac involvement supported by animal model studies.
Sources: Literature
Created: 7 Dec 2021, 10:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182

Publications

Created: 7 Dec 2021, 10:16 a.m.

Panel version: 2.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173
  • Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182
OMIM
604447
Clinvar variants
Variants in GNB5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: GNB5.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GNB5. Source NHS GMS was added to GNB5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gnb5 has been classified as Amber List (Moderate Evidence).

7 Dec 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GNB5 was added gene: GNB5 was added to Cardiac arrhythmias - additional genes. Sources: Literature Q4_21_rating tags were added to gene: GNB5. Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599; 28697420; 29368331; 33172956 Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182 Review for gene: GNB5 was set to GREEN