Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 6 actions
29 Dec 2021	Fetal anomalies v0.1619	ALDOB	Zornitza Stark Marked gene: ALDOB as ready
29 Dec 2021	Fetal anomalies v0.1619	ALDOB	Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
29 Dec 2021	Fetal anomalies v0.1619	ALDOB	Zornitza Stark Phenotypes for gene: ALDOB were changed from HEREDITARY FRUCTOSE INTOLERANCE to Fructose intolerance, hereditary, MIM#229600
29 Dec 2021	Fetal anomalies v0.1618	ALDOB	Zornitza Stark changed review comment from: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; to: Presentation is typically post-natal.
29 Dec 2021	Fetal anomalies v0.1618	ALDOB	Zornitza Stark Deleted their comment
24 Oct 2021	Fetal anomalies v0.0	ALDOB	Zornitza Stark gene: ALDOB was added gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE