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Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Marked gene: FIG4 as ready
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Classified gene: FIG4 as Green List (high evidence)
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.7 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 41177402; 40884084; 40118803; 40062820; 37950760; 37868919
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease type 4J, MONDO:0012640
Review for gene: FIG4 was set to GREEN
Added comment: PMID 37868919 reports 1 family with biallelic loss‑of‑function FIG4 variants presenting with early‑onset Parkinsonism and Charcot‑Marie‑Tooth features; PMID 40062820 reports 1 family with biallelic loss‑of‑function FIG4 variants and a progressive supranuclear palsy‑like syndrome; PMID 37950760 reports 2 families with CMT4J and Parkinsonism; PMID 41177402 reports 2 families with CMT4J and early‑onset Parkinsonism, bringing the total to 6 families.
Sources: Literature