Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Marked gene: FA2H as ready
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Classified gene: FA2H as Green List (high evidence)
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1953 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 29423566
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#611026
Review for gene: FA2H was set to GREEN
Added comment: Well established gene-disease association, both peripheral and central features, childhood-onset, progressive. Epilepsy reported in multiple individuals.
Sources: Expert Review