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Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.76 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 23033978; 30256902
Phenotypes for gene: PHACTR1 were set to Epileptic encephalopathy, early infantile, 70, MIM# 618298
Review for gene: PHACTR1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene.
Sources: Expert list