Genomics England
GMS Panels
Panels
Genes and Entities

ABCD1

ATP binding cassette subfamily D member 1
OMIM: 300371
PanelMode of inheritanceDetails
9 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
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
spastic paraparesis, Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, Adrenoleukodystrophy, 300100
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.4
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
R-numbers: R58
Signed-off version 7.10
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
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.7
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
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 6.163
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, Adrenomyeloneuropathy, adult, OMIM:300100, adrenoleukodystrophy, MONDO:0018544
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
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 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 7.13
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
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.9
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenomyeloneuropathy, adult, 300100, Adrenoleukodystrophy, X-linked, Adrenoleukodystrophy, Adrenoleukodystrophy, 300100, X-Linked Adrenoleukodystrophy