Gene Symbol:
ABCD1
HGNC:61
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Definitive classifications

adrenoleukodystrophy
Submitted as: OMIM:300100
XL
07/22/2015
Evaluated
09/11/2023
Submitted
X-linked cerebral adrenoleukodystrophy
Submitted as: OMIM:300100
XL
05/28/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
adrenoleukodystrophy
XL
12/18/2020
Evaluated
04/21/2024
Submitted

Strong classifications

hereditary spastic paraplegia
XL
01/28/2021
Evaluated
03/31/2021
Submitted
adrenoleukodystrophy
Submitted as: OMIM:300100
XL
01/23/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Hirschsprung disease
Submitted as: Orphanet:388
AD
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked cerebral adrenoleukodystrophy
Submitted as: Orphanet:139396
XL
09/14/2021
Evaluated
09/14/2021
Submitted
adrenomyeloneuropathy
Submitted as: Orphanet:139399
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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