Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Gastrointestinal Stromal Tumour v0.16 KIT Zornitza Stark Marked gene: KIT as ready
Gastrointestinal Stromal Tumour v0.16 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.4 KIT Chirag Patel Classified gene: KIT as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.4 KIT Chirag Patel Gene: kit has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.1 KIT Chirag Patel gene: KIT was added
gene: KIT was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor, familial, MIM#606764
Mode of pathogenicity for gene: KIT was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KIT was set to GREEN
Added comment: ClinGen definitive. GOF variants.
Sources: Expert list, Expert Review