Activity

Filter

Cancel
Date Panel Item Activity
7 actions
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