Neurological ciliopathies
Gene: EXOC3L2
Comment on list classification: There is sufficient evidence for this gene to be green on this panel.Created: 5 Mar 2024, 12:50 p.m. | Last Modified: 5 Mar 2024, 12:50 p.m.
Panel Version: 3.18
To date, EXOC3L2 variants have not been associated with a phenotype in OMIM or Gen2Phen. However, four homozygous EXOC3L2 variants have been reported in four unrelated cases with a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow (PMID: 28749478, 27894351; 30327448; 34974531).Created: 5 Mar 2024, 12:49 p.m. | Last Modified: 5 Mar 2024, 12:49 p.m.
Panel Version: 3.16
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
Four individuals from two unrelated families reported.Created: 21 May 2020, 4:48 a.m. | Last Modified: 21 May 2020, 4:48 a.m.
Panel Version: 1.7
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
Phenotypes
hindbrain abnormalities; kidney and bone marrow abnormalities
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_24_promote_green tag was added to gene: EXOC3L2.
Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448
Publications for gene: EXOC3L2 were set to 28749478; 27894351
gene: EXOC3L2 was added gene: EXOC3L2 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 28749478; 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios