Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2028 B4GAT1 Lilian Downie gene: B4GAT1 was added
gene: B4GAT1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to PMID 23877401, PMID: 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287
Review for gene: B4GAT1 was set to AMBER
Added comment: PMID 23877401 multiple family members affected, 1 with seizures
PMID: 23359570 affected 2yo with seizures
Sources: Expert list