Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R58 Signed-off version 6.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Amyotrophic lateral sclerosis 8, OMIM:608627 |
R-numbers: R78 Signed-off version 5.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980, Amyotrophic lateral sclerosis 8, OMIM:608627 |