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| Dilated Cardiomyopathy and conduction defects v1.80 | JUP | Arina Puzriakova Phenotypes for gene: JUP were changed from to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.55 | JUP | Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 OMIM#611528; Naxos disease OMIM#601214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | JUP | Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Five variants assoc with DCM on HGMD they all have some freq - though 4 are <4 alleles on GnomAD, references include Walsh 2017 and Haas 2015 . Lots of evidence on HGMDPro for ARVC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | JUP | Rebecca Whittington reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | JUP |
Ellen McDonagh Source South West GLH was added to JUP. Mode of inheritance for gene JUP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Dilated Cardiomyopathy and conduction defects v1.46 | JUP | Ellen McDonagh reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.45 | JUP | Ellen McDonagh Source London South GLH was added to JUP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||