Rare multisystem ciliopathy disorders
Gene: EXOC3L2Comment 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).Created: 18 May 2020, 8:19 a.m. | Last Modified: 18 May 2020, 8:19 a.m.
Panel Version: 1.125
Added 'watchlist' tag.Created: 16 Oct 2018, 2:55 p.m.
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.Created: 16 Oct 2018, 2:55 p.m.
Comment on publications: Note that the Reviewer's 7894351 publication suggestion is a typo and should be 27894351.Created: 16 Oct 2018, 2:49 p.m.
Only one consanguineous family with above phenotype in 3 children.
Homozygous loss of function mutation.
No functional data to support this genes role in cilial function.
Mutations in this gene seems to be an extremely rare cause of the above phenotype, therefore warranting inclusion in rare unexplained fetal loss/congenital malformations but no current data to support being included within Rare Cilial phenotypes.Created: 5 Sep 2018, 11:30 p.m.
Phenotypes
anhydramnios, echogenic kidneys; hydrocephalus; Dandy-Walker malformation, enlarged echogenic kidneys
Publications
Identified as a candidate gene for ciliopathy in a couple of papers, consider watching as Red/Amber.Created: 4 Aug 2018, 8:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: EXOC3L2.
Gene: exoc3l2 has been classified as Red List (Low Evidence).
Phenotypes for gene: EXOC3L2 were changed from to anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys
Publications for gene: EXOC3L2 were set to 28749478; 27894351
Publications for gene: EXOC3L2 were set to 28749478, 27894351
EXOC3L2 was added to Rare multisystem ciliopathy disorders panel. Sources: Expert list
EXOC3L2 was created by Zornitza Stark