BabyScreen+ newborn screening
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Variable severity, including adult-onset forms. Age of onset and severity are difficult to predict. Severe forms are life-limiting and have onset in childhood.

BMT is curative and surveillance protocols exist based on MRI.

ALD is screened for by several US states, as well as in the Netherlands. Currently being considered by MSAC.

Would be reported in those with a single X chromosome only (XY or XO).
Created: 20 Sep 2022, 6:27 a.m. | Last Modified: 20 Sep 2022, 6:27 a.m.

Panel Version: 0.56

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

Phenotypes
Adrenoleukodystrophy, MIM# 300100

Created: 20 Sep 2022, 6:27 a.m.
Last Modified: 20 Sep 2022, 6:27 a.m.
Panel version: 0.56

Details

Mode of Inheritance

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

Sources

Expert Review Green
BabySeq Category A gene

Phenotypes

Adrenoleukodystrophy, MIM# 300100

Tags

treatable metabolic

OMIM

300371

Clinvar variants

Variants in ABCD1

Penetrance

None

Panels with this gene