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| Dilated Cardiomyopathy and conduction defects v1.55 | MYPN | Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, dilated, 1KK OMIM#615248; Cardiomyopathy, familial restrictive, 4 OMIM#615248; Cardiomyopathy, hypertrophic, 22 OMIM#615248; Nemaline myopathy 11, autosomal recessive OMIM#617336 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | MYPN | Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171 - variant where func studies undertaken and seen in HCM and DCM has 294 alleles on Gnomad so suggest this is not a pathogenic variant. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. Haas 2015 Four variants listed assoc with DCM but three have quite high freq and the fourth is a nonsense with no freq. Summary: Quite a number of variants reported associated with DCM, just from two studies only 1/5 variants has no freq the other may be too high to be disease causing. Note in Purevjav struggling to tie up c. and p. nomenclature in Alamut in NM_032578.2 as quoted in paper. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | MYPN | Rebecca Whittington reviewed gene: MYPN: 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 | MYPN |
Ellen McDonagh Source South West GLH was added to MYPN. Mode of inheritance for gene MYPN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Dilated Cardiomyopathy and conduction defects v1.46 | MYPN | Ellen McDonagh reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.45 | MYPN | Ellen McDonagh Source London South GLH was added to MYPN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||