Hereditary Neuropathy - complex
Gene: ABCD1
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
Gene: abcd1 has been classified as Green List (High Evidence).
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
Publications for gene: ABCD1 were set to
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