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| Progressive cardiac conduction disease v2.15 | POPDC2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are five unrelated families reported with cardiac conduction disease. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are five unrelated families reported with cardiac conduction disease and with biallelic POPDC2 variants. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v2.15 | POPDC2 | Achchuthan Shanmugasundram Classified gene: POPDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v2.15 | POPDC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported with cardiac conduction disease. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v2.15 | POPDC2 | Achchuthan Shanmugasundram Gene: popdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v2.14 | POPDC2 |
Achchuthan Shanmugasundram gene: POPDC2 was added gene: POPDC2 was added to Progressive cardiac conduction disease. Sources: Literature Q2_26_promote_green tags were added to gene: POPDC2. Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POPDC2 were set to 40409267; 41456958 Phenotypes for gene: POPDC2 were set to Cardiac conduction disease with or without cardiomyopathy 2, OMIM:621367; cardiac conduction disease with or without cardiomyopathy 2, MONDO:0700389 Review for gene: POPDC2 was set to GREEN Added comment: PMID:40409267 (2025) reported the identification of biallelic variants in POPDC2 gene in six patients from four families presenting with a phenotypic spectrum consisting of sinus node dysfunction, AV conduction defects, and hypertrophic cardiomyopathy. Modelling and electrophysiological studies suggested effects of identified POPDC2 variants on cAMP binding and TREK-1 current. PMID:41456958 (2026) reported the identification of a novel homozygous POPDC2 variant in a patient presenting with early-onset cardiac conduction disease and hypertrophic cardiomyopathy. This gene has been associated with relevant phenotype in OMIM (MIM #621367, record last accessed on 22 April 2026), but not yet in Gene2Phenotype or ClinGen. Sources: Literature |
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