Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic newborn screening: BabyScreen+ v0.2080 | SCARB2 | Zornitza Stark Marked gene: SCARB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.2080 | SCARB2 | Zornitza Stark Gene: scarb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.2080 | SCARB2 | Zornitza Stark Classified gene: SCARB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.2080 | SCARB2 | Zornitza Stark Gene: scarb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.2063 | SCARB2 |
Lilian Downie gene: SCARB2 was added gene: SCARB2 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARB2 were set to PMID: 34337151, PMID: 35346091, PMID: 26677510 Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900 Review for gene: SCARB2 was set to RED Added comment: Onset not <5 Sources: Expert list |