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Hereditary Neuropathy - complex v0.149 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Hereditary Neuropathy - complex v0.149 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.149 ABCD1 Zornitza Stark 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
Hereditary Neuropathy - complex v0.148 ABCD1 Zornitza Stark Publications for gene: ABCD1 were set to
Hereditary Neuropathy - complex v0.142 ABCD1 Sangavi Sivagnanasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301491; Phenotypes: Adrenomyeloneuropathy, adult (MIM#300100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.0 ABCD1 Bryony Thompson 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