Leukodystrophy - adult onset
Gene: ABCD1

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

20301491

Created: 8 Sep 2023, 1:13 a.m.
Last Modified: 8 Sep 2023, 1:13 a.m.
Panel version: 0.109

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100

OMIM

300371

Clinvar variants

Variants in ABCD1

Penetrance

None

Panels with this gene

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

Leukodystrophy - adult onset Gene: ABCD1