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  3. POPDC2
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Sick sinus syndrome

Gene: POPDC2

Green List (high evidence)
POPDC2 (popeye domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000121577
EnsemblGeneIds (GRCh37): ENSG00000121577
OMIM: 605823, Gene2Phenotype
POPDC2 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ESHG 2023:
3 families with 7 affected with sinus node dysfunction (bradycardia) and AV block (2/7 HCM).

3 x HMZ variants found in POPDC2 (2 x missense, 1 x indel). Variants predicted to diminish cAMP binding of POPDC2, and shown to disrupt regulation of TREK1 channels (lowering of outward K+ current).

POPDC2 is highly expressed in cardiac myocytes, sinoatrial node, and atrioventricular node.
Knockdown in zebrafish leads to AV block, and knockout in mice leads to sinus node dysfunction.
Sources: Other
Created: 24 Jul 2023, 4:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sinus node dysfunction

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jul 2023, 4:55 a.m.

Panel version: 1.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Sinoatrial node disorder, MONDO:0000469, POPDC2-related
OMIM
605823
Clinvar variants
Variants in POPDC2
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: popdc2 has been classified as Green List (High Evidence).

25 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POPDC2 were changed from Sinus node dysfunction to Sinoatrial node disorder, MONDO:0000469, POPDC2-related

24 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Green List (High Evidence).

24 Jul 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: POPDC2 was added gene: POPDC2 was added to Sick sinus syndrome. Sources: Other Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POPDC2 were set to Sinus node dysfunction Review for gene: POPDC2 was set to GREEN gene: POPDC2 was marked as current diagnostic