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Adult onset neurodegenerative disorder v1.74 ALAS2 Louise Daugherty commented on gene: ALAS2: 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.
Adult onset neurodegenerative disorder v1.72 ALAS2 Nick Beauchamp reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.67 ALAS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALAS2.
Adult onset neurodegenerative disorder v1.7 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.6 ALAS2 Anthony Dallosso reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.5 ALAS2 Louise Daugherty Source NHS GMS was added to ALAS2.
Adult onset neurodegenerative disorder v1.4 ALAS2 Louise Daugherty Source South West GLH was added to ALAS2.
Adult onset neurodegenerative disorder v0.2 ALAS2 Rebecca Foulger gene: ALAS2 was added
gene: ALAS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)