| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1876 | ACADSB | Zornitza Stark Marked gene: ACADSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1876 | ACADSB | Zornitza Stark Gene: acadsb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1876 | ACADSB | Zornitza Stark Phenotypes for gene: ACADSB were changed from 2-Methylbutyryl-CoA dehydrogenase deficiency to 2-methylbutyrylglycinuria MIM#610006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1875 | ACADS | Zornitza Stark Marked gene: ACADS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1875 | ACADS | Zornitza Stark Gene: acads has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1872 | ACADSB | Lilian Downie reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria MIM#610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1872 | ACADS | Lilian Downie reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | ACADSB |
Zornitza Stark gene: ACADSB was added gene: ACADSB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency |
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| BabyScreen+ newborn screening v0.0 | ACADS |
Zornitza Stark gene: ACADS was added gene: ACADS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 |
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