Hereditary Neuropathy - complex

Gene: ABCD1

Green List (high evidence)

ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Adult onset of adrenoleukodystrophy

Well established gene with loss of function as an established mechanism of disease (Gene reviews - PMID: 20301491)
Created: 18 May 2023, 11:49 p.m. | Last Modified: 18 May 2023, 11:49 p.m.
Panel Version: 0.142

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

Phenotypes
Adrenomyeloneuropathy, adult (MIM#300100)

Publications

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
  • Royal Melbourne Hospital
Phenotypes
  • Adrenomyeloneuropathy, adult (MIM#300100)
  • Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
OMIM
300371
Clinvar variants
Variants in ABCD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcd1 has been classified as Green List (High Evidence).

19 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCD1 were changed from Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance to Adrenomyeloneuropathy, adult (MIM#300100); Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance

19 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCD1 were set to

13 Jan 2020, 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 Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance