Congenital adrenal hypoplasiaGene: ABCD1
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.
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
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.
This proposed gene was validated and added to this panel
ABCD1 was created by John Achermann
ABCD1 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list