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Rare multisystem ciliopathy disorders v1.125 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.125 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review of EXOC3L2 on the CAKUT gene panel, and on advice from Helen Brittain (Genomics England Clinical Team).
Rare multisystem ciliopathy disorders v1.125 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: Added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Tag watchlist tag was added to gene: EXOC3L2.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Red List (low evidence)
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red: Currently only a candidate ciliopathy gene (PMID:27894351). Further cases and functional evidence required for inclusion on panel.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Red List (Low Evidence).
Rare multisystem ciliopathy disorders v1.59 EXOC3L2 Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from to anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys
Rare multisystem ciliopathy disorders v1.58 EXOC3L2 Rebecca Foulger Added comment: Comment on publications: Note that the Reviewer's 7894351 publication suggestion is a typo and should be 27894351.
Rare multisystem ciliopathy disorders v1.58 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 28749478; 27894351
Rare multisystem ciliopathy disorders v1.57 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 28749478, 27894351
Rare multisystem ciliopathy disorders EXOC3L2 Andrea Nemeth reviewed gene: EXOC3L2
Rare multisystem ciliopathy disorders EXOC3L2 Zornitza Stark Added gene to panel