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| Cardiomyopathy_Paediatric v0.215 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.214 | PRKAG2 | Zornitza Stark Publications for gene: PRKAG2 were set to 194200; 37013823; 30681346 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.213 | PRKAG2 | Zornitza Stark edited their review of gene: PRKAG2: Changed publications: 37013823, 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.213 | PRKAG2 | Zornitza Stark Marked gene: PRKAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.213 | PRKAG2 | Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.213 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM to Cardiomyopathy, hypertrophic 6, MIM# 600858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.212 | PRKAG2 | Zornitza Stark Publications for gene: PRKAG2 were set to 194200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.211 | PRKAG2 | Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.210 | PRKAG2 | Zornitza Stark changed review comment from: Can present in adulthood with isolated HCM.; to: Monoallelic variants can present in adulthood with isolated HCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.210 | PRKAG2 | Zornitza Stark edited their review of gene: PRKAG2: Added comment: PMID 37013823 reports 3 infants from 2 unrelated families with biallelic truncating PRKAG2 variants presenting with severe neonatal dilated cardiomyopathy, rapid progression to cardiogenic shock and death. Homozygous p.Ile550Asnfs*58 identified in siblings; a 2504 bp exon 11 deletion causing frameshift identified in a third infant. Parents heterozygous and asymptomatic. Zebrafish double knockout model recapitulates reduced ejection fraction, ventricular thickening and atrial fibrillation, supporting loss‑of‑function disease mechanism.; Changed publications: 37013823; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | PRKAG2 |
Zornitza Stark gene: PRKAG2 was added gene: PRKAG2 was added to Cardiomyopathy_Paediatric. Sources: London South GLHSouth West GLH,NHS GMS,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM |
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