Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R56 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 |
R-numbers: R58 Signed-off version 6.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 |
R-numbers: R15 Signed-off version 6.12 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Herpes simplex encephalitis, susceptibility to, Herpetic encephalitis (HSE), {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900, Herpes simplex virus 1 encephalitis, Defects in Intrinsic and Innate Immunity |