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BabyScreen+ newborn screening v1.114 SPEG Tommy Li Added phenotypes Centronuclear myopathy 5, MIM# 615959 for gene: SPEG
Publications for gene SPEG were updated from 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540 to 30412272; 26578207; 29474540; 31625632; 28624463; 30157964; 29614691; 25087613
BabyScreen+ newborn screening v0.1416 SPEG Seb Lunke Marked gene: SPEG as ready
BabyScreen+ newborn screening v0.1416 SPEG Seb Lunke Gene: speg has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1416 SPEG Seb Lunke Classified gene: SPEG as Red List (low evidence)
BabyScreen+ newborn screening v0.1416 SPEG Seb Lunke Gene: speg has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1415 SPEG Seb Lunke reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959