1. Panels
  2. Intellectual_disability
  3. ABCD1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual_disability

Gene: ABCD1

Green List (high evidence)
ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Adrenoleukodystrophy, 300100
  • Adrenomyeloneuropathy, adult, 300100
  • Intellectual disability
OMIM
300371
Clinvar variants
Variants in ABCD1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCD1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCD1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCD1 was added to Intellectual_disabilitypanel. Source: Emory Genetics Laboratory

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCD1 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory