Leukodystrophy - adult onset

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 17 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established leukodystrophy gene
Created: 8 Sep 2023, 1:13 a.m. | Last Modified: 8 Sep 2023, 1:13 a.m.
Panel Version: 0.109

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
adrenoleukodystrophy MONDO:0018544; X-linked cerebral adrenoleukodystrophy MONDO:0010247

Publications

History Filter Activity

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCD1 was added gene: ABCD1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100