Congenital adrenal hypoplasia
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 10 Dec 2025, 2:52 p.m. | Last Modified: 10 Dec 2025, 2:52 p.m.
Panel Version: 4.8
Arina Puzriakova (Genomics England Curator)
Comment on list classification: This gene should be promoted to Green at the next GMS panel update as its plausible that ABCD1-related adrenoleukodystrophy, which presents with adrenal insufficiency, could be tested under this panel.Created: 18 Jun 2025, 10:45 a.m. | Last Modified: 18 Jun 2025, 10:45 a.m.
Panel Version: 4.3
Dmitrijs Rots (Children's Clinical University Hospital)
ABCD1 can present with isolated adrenal insufficiency (Addison's disease) in childhood or adulthood (https://www.ncbi.nlm.nih.gov/sites/books/NBK1315/) and can mimic congenital adrenal hypoplasia. The Very long chain fatty acid testing in not always performed for such patients. Should be green (or at least amber) on the panel.Created: 15 Jul 2024, 7:22 a.m. | Last Modified: 15 Jul 2024, 7:22 a.m.
Panel Version: 3.11
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; Adrenomyeloneuropathy, adult
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Add the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412/Created: 12 May 2018, 9:01 a.m.
John Achermann (UCL Institute of Child Health)
Classically associated with X-linked adrenoleukodystrophy and should be diagnosed due to elevated very-long chain fatty acids (VLCFAs). Associated with neurological issues and progressive features. However, there can present with an adrenal phenotype which may be misdiagnosed as adrenal hypoplasia if biochemistry not performed.Created: 7 Dec 2015, 2:39 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Adrenoleukodystrophy, OMIM:300100
- Adrenoleukodystrophy, adult, OMIM:300100
- Tags
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Congenital adrenal hypoplasia
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: ABCD1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to ABCD1. Source Expert Review Green was added to ABCD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ABCD1 were changed from X-linked adrenoleukodystrophy to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ABCD1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: abcd1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ABCD1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: ABCD1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
John Achermann (UCL Institute of Child Health)ABCD1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list
Created
John Achermann (UCL Institute of Child Health)ABCD1 was created by John Achermann