Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Cholestasis v1.31 PEX14 Ivone Leong Classified gene: PEX14 as Amber List (moderate evidence)
Cholestasis v1.31 PEX14 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is currently not enough evidence to support gene-disease association. This gene has been given Amber status until further evidence is available.
Cholestasis v1.31 PEX14 Ivone Leong Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.30 PEX14 Ivone Leong Publications for gene: PEX14 were set to 21686775; 18285423
Cholestasis v1.29 PEX14 Ivone Leong Phenotypes for gene: PEX14 were changed from Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Cholestasis v1.16 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 21686775; 18285423
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Review for gene: PEX14 was set to AMBER
Added comment: Two cases reported with cholestasis.
Sources: Expert list