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Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green. ABCD1 was added to panel and rated Green by Chris Buxton (Bristol NHS). Sufficient unrelated cases (>3) of patients with HSP phenotype and ABCD1 variant to support causation of spastic paraplegia (see comments on individual papers for details).
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.147 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis; Adrenoleukodystrophy, 300100
Hereditary spastic paraplegia v1.146 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Hereditary spastic paraplegia v1.145 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: O'Neill (2001, 11739809) identify a large kindred with AMN phenotype resembling X-linked dominant HSP. All obligate female carriers were clinically affected. A deletion of the ABCD1 gene ATG translation initiaion codon was detected leading to an N-terminally truncated protein.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Koutsis (2015, 26049658) report a Greek family with 5 males and 2 females developing progressive spastic paraplegia. NGS of the proband revealed a novel frameshift mutation in ABCD1 (c.1174_1178del, p.Leu392Serfs*7), which segregated in all family members.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Zhan 2013 (PMID:23664929) investigated a Chinese family with recessive HSP. A missense variant (c.1661G>A, p.R554H) was identified in ABCD1, which co-segregated with the disease.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Balicza (2016, 27084228) carried out genetic testing for 58 probands with clinical features of HSP. Results included one hemizygous variant in ABCD1 (c.1553G>C, p.Arg518Pro) in a male patient with sporadic spastic paraparesis. His disease started at age 28. The authors report that there are other similar cases where ABCD1 variants mimic HSP.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Classified gene: ABCD1 as Red List (low evidence)
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Gene: abcd1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.71 ABCD1 Chris Buxton edited their review of gene: ABCD1: Changed publications: 11810273, 27084228, 11739809, 26049658
Hereditary spastic paraplegia v1.71 ABCD1 Chris Buxton gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia. Sources: Literature
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 Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation
Penetrance for gene: ABCD1 were set to unknown
Review for gene: ABCD1 was set to GREEN
Added comment: Guimarães (2001, 11810273), X-linked adrenoleukodystrophy.
Spastic paraparesis with neurophysiologic abnormalities with an altered spinal cord MRI and a normal cerebral MRI. 2 different splice variants described

Balicza (2016, 27084228), hereditary spastic paraplegia phenotype
Spastic paraparesis; c.1553G>C p.R518P (no details)

O'Neill (2001, 11739809), X-linked dominant hereditary spastic paraparesis
Obligate female carriers affected, deletion 26 bp nt. 369-394, 5'UTR-cd.3

Koutsis (2015, 26049658) progressive spastic paraplegia with raised VLCFA, ABCD1 (c.1174_1178del, p.Leu392Serfs*7)

Gene is on Sheffield's HSP panel
Sources: Literature