Catecholaminergic Polymorphic Ventricular Tachycardia

Gene: KCNJ2

Red List (low evidence)

Disputed evidence by ClinGen CPVT Expert Panel

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f2490f-215e-427e-be7b-6a68e3f89e32-2021-01-20T170000.000Z?page=1&size=25&search=

Created: 4 Apr 2024, 2:26 a.m. | Last Modified: 4 Apr 2024, 2:26 a.m.

Panel Version: 0.33

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990

I don't know

as at 3/6/202, KNJ@ was not curated by ClinGen, is RED for CPVT on GEL Panel App and is not asscoiated with CPVT in OMIM.

Limited evidence exists for KCNJ2 as a cause for CPVT. However, overlap exists in the cardiac features of ATS and CPVT (PMID: 31020160, 22589293, 26322597) making distinguishing between the 2 conditions difficult. On the basis that there can be overlapping cardiac features, KCNJ2 should remain on the CPVT gene list as amber, to assist with distinguishing these 2 conditions.

Created: 3 Jun 2020, 5:45 a.m. | Last Modified: 3 Jun 2020, 5:45 a.m.

Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Andersen Tawil syndrome, LQTS

Publications

• PMID: 31020160, 22589293, 26322597