Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R56 Signed-off version 3.19 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Perry syndrome, OMIM:168605, Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641 |
R-numbers: R58 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neuropathy, distal hereditary motor, type VIIB, OMIM:607641, Perry syndrome, OMIM:168605, {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400 |
R-numbers: R78 Signed-off version 4.11 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400, Neuropathy, distal hereditary motor, type VIIB 607641 |