Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R60 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes spastic paraparesis, Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, Adrenoleukodystrophy, 300100 |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 |
R-numbers: R58 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Hereditary spastic paraplegia, MONDO:0019064, adrenal failure, VLCFA accumulation, spastic paraparesis |
R-numbers: R61 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes spastic paraparesis, VLCFA accumulation, adrenal failure, Hereditary spastic paraplegia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes ADRENOLEUKODYSTROPHY, X-LINKED 300100 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Adrenoleukodystrophy, 300100, Adrenomyeloneuropathy, adult, 300100, ADRENOLEUKODYSTROPHY, X-LINKED |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation), Adrenoleukodystrophy 300100 |
Component of the following Super Panels:
Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Adrenomyeloneuropathy, adult, 300100, Adrenoleukodystrophy, X-linked, Adrenoleukodystrophy, Adrenoleukodystrophy, 300100, X-Linked Adrenoleukodystrophy |