Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.7 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, actin, congenital, with cores, OMIM:161800, Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800, Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310, Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800, CMD with rigid spine |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.42 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, actin, congenital, with cores, OMIM:161800, Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800, Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310, Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEMALINE MYOPATHY 3, 161800 |
Green in Distal myopathiesComponent of the following Super Panels:
Signed-off version 5.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dilated cardiomyopathy, MONDO:0005021, Hypertrophic cardiomyopathy, MONDO:0005045, Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800, CMD with rigid spine, Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 |