Genomics England

ABCD1

ATP binding cassette subfamily D member 1

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Congenital adrenal hypoplasia R-numbers: R150 Signed-off version 5.5	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 8.0	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 8.30	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 Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	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 Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	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 Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	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 Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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 Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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 White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Adrenoleukodystrophy, OMIM:300100, Adrenoleukodystrophy, adult, OMIM:300100