Adult onset neurodegenerative disorder
Gene: ABCD1
Adrenoleukodystrophy can present at a variety of ages and with different manifestations. If neurodegenerative then would be greenCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
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
Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
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
Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Pseudogene would confound variant callingCreated: 23 Apr 2019, 5:31 p.m.
Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.Created: 7 Jan 2019, 2:33 p.m.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.Created: 20 Dec 2018, 3:13 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Green by Chris Buxton.Created: 20 Dec 2018, 10:27 a.m.
Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia, MONDO:0019064; adrenal failure; VLCFA accumulation; spastic paraparesis
Source Wessex and West Midlands GLH was added to ABCD1.
Source Yorkshire and North East GLH was added to ABCD1.
Source NHS GMS was added to ABCD1.
Source London North GLH was added to ABCD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Rebecca Foulger: Gene awaiting curator evaluati
Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Gene: abcd1 has been classified as Green List (High Evidence).
Gene: abcd1 has been classified as Red List (Low Evidence).
Gene: abcd1 has been removed from the panel.
gene: ABCD1 was added gene: ABCD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list 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) Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658 Phenotypes for gene: ABCD1 were set to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation