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BabyScreen+ newborn screening v1.114 SHANK3 Tommy Li Added phenotypes Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652 for gene: SHANK3
Publications for gene SHANK3 were updated from 17173049; 30842224; 16284256; 20186804; 22892527 to 30842224; 16284256; 22892527; 17173049; 20186804
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Marked gene: SHANK3 as ready
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Classified gene: SHANK3 as Red List (low evidence)
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.699 SHANK3 Seb Lunke reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652