JPH2

junctophilin 2
OMIM: 605267, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber JPH2 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.37 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 2E, MIM# 619492 Tags founder
Amber JPH2 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.0 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, MIM#613873
Amber JPH2 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, MIM#613873 Cardiomyopathy, dilated, 2E, MIM# 619492
Amber JPH2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cardiomyopathy, hypertrophic, MIM#613873 Cardiomyopathy, dilated, 2E, MIM# 619492
Red JPH2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Cardiomyopathy, hypertrophic
Red JPH2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic