Renal ciliopathies

Gene: EXOC3L2

Red List (low evidence)

EXOC3L2 (exocyst complex component 3 like 2)
EnsemblGeneIds (GRCh38): ENSG00000283632
EnsemblGeneIds (GRCh37): ENSG00000130201
OMIM: 616927, Gene2Phenotype
EXOC3L2 is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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.

Andrea Nemeth (University of Oxford)

Red List (low evidence)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
Phenotypes
  • Dandy-Walker malformation
  • enlarged echogenic kidneys
  • echogenic kidneys
  • hydrocephalus
  • anhydramnios
OMIM
616927
Clinvar variants
Variants in EXOC3L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: EXOC3L2 was added gene: EXOC3L2 was added to Renal ciliopathies. Sources: Expert list,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