Peroxisomal biogenesis disorders

Gene: ABCD1

Red List (low evidence)

ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 18 panels

1 review

Helen Savage (Congenica Ltd)

Red List (low evidence)

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

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