ABCD1

ATP binding cassette subfamily D member 1
OMIM: 300371
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ADRENOLEUKODYSTROPHY, X-LINKED 300100
R-numbers: R60
Signed-off version 1.27
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
R-numbers: R61
Signed-off version 2.18
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenoleukodystrophy, 300100, Adrenomyeloneuropathy, adult, 300100, ADRENOLEUKODYSTROPHY, X-LINKED
R-numbers: R58
Signed-off version 2.178
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: R62
Signed-off version 1.25
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenomyeloneuropathy, adult, 300100, Adrenoleukodystrophy, X-linked, Adrenoleukodystrophy, Adrenoleukodystrophy, 300100, X-Linked Adrenoleukodystrophy