Early-onset Parkinson disease
Gene: SLC9A6
Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition.
Sources: LiteratureCreated: 6 Mar 2025, 3:46 a.m.
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
Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Publications
Gene: slc9a6 has been classified as Green List (High Evidence).
Gene: slc9a6 has been classified as Green List (High Evidence).
gene: SLC9A6 was added gene: SLC9A6 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: SLC9A6 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: SLC9A6 were set to 35198730; 39810750; 35198730; 31192222 Phenotypes for gene: SLC9A6 were set to Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142 Review for gene: SLC9A6 was set to GREEN