Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R31 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cataract 16, multiple types, OMIM:613763, Myopathy, myofibrillar, 2, OMIM:608810 |
Green in Distal myopathiesComponent of the following Super Panels:
Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, myofibrillar, 2, OMIM:608810, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.34 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, myofibrillar, 2, OMIM:608810, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 |