Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic newborn screening: BabyScreen+ v0.702 | SHH | Seb Lunke Marked gene: SHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.702 | SHH | Seb Lunke Gene: shh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.702 | SHH | Seb Lunke Phenotypes for gene: SHH were changed from Holoprosencephaly-3 to Holoprosencephaly 3, MIM#142945 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.701 | SHH | Seb Lunke Classified gene: SHH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.701 | SHH | Seb Lunke Gene: shh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.700 | SHH | Seb Lunke reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 3, MIM#142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.0 | SHH |
Zornitza Stark gene: SHH was added gene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHH were set to Holoprosencephaly-3 |