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Arthrogryposis v0.164 | SLC18A3 | Zornitza Stark Marked gene: SLC18A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.164 | SLC18A3 | Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.164 | SLC18A3 | Zornitza Stark Classified gene: SLC18A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.164 | SLC18A3 | Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.163 | SLC18A3 |
Zornitza Stark gene: SLC18A3 was added gene: SLC18A3 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis Review for gene: SLC18A3 was set to AMBER Added comment: Two of four families presented with fetal akinesia and arthrogryposis. Sources: Expert list |