Cardiac arrhythmias - additional genes
Gene: GNB5
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: LiteratureCreated: 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
Tag Q4_21_rating was removed from gene: GNB5.
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)
Gene: gnb5 has been classified as Amber List (Moderate Evidence).
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