This Panel is marked as Internal
Peroxisomal biogenesis disorders
Gene: ABCD1
ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
1 review
Helen Savage (Congenica Ltd)
ALD has its own gene panel; not necessary to include this gene in the "other peroxisomal disorders" panel.Created: 23 Feb 2016, 3:14 p.m.
Mode of inheritance
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; X-linked adult Adrenomyeloneuropathy
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
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Adrenoleukodystrophy, X-linked
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Congenital adrenal hypoplasia
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ABCD1 was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services