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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 |
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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 |