Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Dystonia - complex v0.271 | FA2H | Zornitza Stark Marked gene: FA2H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.271 | FA2H | Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.271 | FA2H | Zornitza Stark Publications for gene: FA2H were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.254 | FA2H | Sangavi Sivagnanasundram reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20104589, 20853438, 31135052; Phenotypes: hereditary spastic paraplegia 35 MONDO:0012866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.0 | FA2H |
Bryony Thompson gene: FA2H was added gene: FA2H was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FA2H were set to Dystonia; Spastic paraplegia 35, autosomal recessive 612319; fatty acid hydroxylase-associated neurodegeneration |