Genomics England

ABCD1

ATP binding cassette subfamily D member 1

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset hereditary spastic paraplegia Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.10	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100, Adrenal failure, VLCFA accumulation, Spastic paraparesis
Green in Adult onset leukodystrophy R-numbers: R62 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 Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, OMIM:300100
Green in Adult onset neurodegenerative disorder Component of the following Super Panels: - Adult-onset neurological disorders R-numbers: R58 Signed-off version 9.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Adrenoleukodystrophy, adult, OMIM:300100
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 9.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100, Adrenal failure, VLCFA accumulation, Spastic paraparesis
Green in Congenital adrenal hypoplasia R-numbers: R150 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 Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes ADRENOLEUKODYSTROPHY, X-LINKED 300100
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy - Paediatric disorders Signed-off version 8.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100