Activity
06 Nov 2018
Limb disorders v0.263
PORCN
Eleanor Williams Marked gene: PORCN as ready
06 Nov 2018
Limb disorders v0.263
PORCN
Eleanor Williams Gene: porcn has been classified as Green List (High Evidence).
06 Nov 2018
Limb disorders v0.263
PORCN
Eleanor Williams Classified gene: PORCN as Green List (high evidence)
06 Nov 2018
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.
06 Nov 2018
Limb disorders v0.263
PORCN
Eleanor Williams Gene: porcn has been classified as Green List (High Evidence).
09 Sep 2018
Limb disorders v0.145
PORCN
Eleanor Williams commented on gene: PORCN: Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin)
09 Sep 2018
Limb disorders v0.145
PORCN
Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence)
09 Sep 2018
Limb disorders v0.145
PORCN
Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
09 Sep 2018
Limb disorders v0.145
PORCN
Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence).
09 Apr 2018
Limb disorders
PORCN
Ellen McDonagh classified PORCN as Green List (high evidence)
09 Apr 2018
Limb disorders
PORCN
Ellen McDonagh classified PORCN as Red List (low evidence)
09 Apr 2018
Limb disorders
PORCN
Ellen McDonagh Added gene to panel