Fetal anomalies
Gene: EXOC3L2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
This gene and phenotype were re-reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).
Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene as per previous reviews (unclear on reason for change from Green to Amber previously)Created: 29 Oct 2021, 2:51 p.m. | Last Modified: 29 Oct 2021, 2:51 p.m.
Panel Version: 1.749
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dandy Walker malformation; Meckel-Gruber like phenotype
Publications
Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.Created: 19 Aug 2020, 6:17 p.m. | Last Modified: 19 Aug 2020, 6:17 p.m.
Panel Version: 1.83
Comment on list classification: Updated rating from Red to Green: 3 unrelated fetal cases (PMIDs:27894351,28749478,30327448).Created: 30 Apr 2020, 4:44 p.m. | Last Modified: 30 Apr 2020, 4:44 p.m.
Panel Version: 1.31
PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family (reviewed briefly in PMID:28749478).Created: 30 Apr 2020, 4:43 p.m. | Last Modified: 30 Apr 2020, 4:43 p.m.
Panel Version: 1.30
PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome.Created: 30 Apr 2020, 4:40 p.m. | Last Modified: 30 Apr 2020, 4:40 p.m.
Panel Version: 1.28
Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound.
Sources: LiteratureCreated: 30 Apr 2020, 4:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dandy-Walker malformation
Publications
Tag gene-checked tag was added to gene: EXOC3L2.
Tag for-review was removed from gene: EXOC3L2.
Source Expert Review Green was added to EXOC3L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: EXOC3L2.
Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation to Dandy-Walker malformation; Meckel-Gruber-like syndrome
Gene: exoc3l2 has been classified as Green List (High Evidence).
Publications for gene: EXOC3L2 were set to 30327448; 28749478
Publications for gene: EXOC3L2 were set to 30327448
gene: EXOC3L2 was added gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 30327448 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation