Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic newborn screening: BabyScreen+ v0.150 | BBS5 | Zornitza Stark Marked gene: BBS5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.150 | BBS5 | Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.150 | BBS5 | Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 5, MIM#615983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.149 | BBS5 | Zornitza Stark Classified gene: BBS5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.149 | BBS5 | Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.148 | BBS5 | Zornitza Stark reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.0 | BBS5 |
Zornitza Stark gene: BBS5 was added gene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome |