Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Limb disorders v0.263 PORCN Eleanor Williams Marked gene: PORCN as ready
Limb disorders v0.263 PORCN Eleanor Williams Gene: porcn has been classified as Green List (High Evidence).
Limb disorders v0.263 PORCN Eleanor Williams Classified gene: PORCN as Green List (high evidence)
Limb disorders v0.263 PORCN Eleanor Williams Added comment: Comment on list classification: Changing rating to Green. More than 3 cases where syndactyly is reported in patients with point mutations resulting in stop mutations in publication PMID:17546031 alone.
Limb disorders v0.263 PORCN Eleanor Williams Gene: porcn has been classified as Green List (High Evidence).
Limb disorders v0.145 PORCN Eleanor Williams commented on gene: PORCN: Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin)
Limb disorders v0.145 PORCN Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence)
Limb disorders v0.145 PORCN Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.145 PORCN Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence).
Limb disorders PORCN Ellen McDonagh classified PORCN as Green List (high evidence)
Limb disorders PORCN Ellen McDonagh classified PORCN as Red List (low evidence)
Limb disorders PORCN Ellen McDonagh Added gene to panel