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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