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| Cardiac arrhythmias - additional genes v2.5 | GNB5 | Arina Puzriakova Tag Q4_21_rating was removed from gene: GNB5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.5 | GNB5 |
Arina Puzriakova 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) |
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| Cardiac arrhythmias - additional genes v2.4 | GNB5 | Arina Puzriakova commented on gene: GNB5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.14 | GNB5 | Arina Puzriakova Classified gene: GNB5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.14 | GNB5 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.14 | GNB5 | Arina Puzriakova Gene: gnb5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.13 | GNB5 |
Arina Puzriakova 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 Added comment: 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 |
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