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Fetal anomalies

Gene: EXOC3L2

Green List (high evidence)
EXOC3L2 (exocyst complex component 3 like 2)
EnsemblGeneIds (GRCh38): ENSG00000283632
EnsemblGeneIds (GRCh37): ENSG00000130201
OMIM: 616927, Gene2Phenotype
EXOC3L2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain malformation renal syndrome, MIM# 620943

Created: 17 Sep 2024, 11:41 p.m.
Last Modified: 17 Sep 2024, 11:41 p.m.
Panel version: 1.267

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

4 patients from 2 families with Dandy-Walker malformation, kidney disease and bone marrow failure reported in 2019.
Another prenatal case reported in 2022 with cerebellar vermis hypoplasia, hyperechogenic enlarged kidneys, and oligohydramnios. All had homozygous mutations in EXOC3L2, which functions in trafficking of post-Golgi vesicles to the plasma membrane. No functional studies. Suitable for fetal anomalies panel.
Created: 14 Jan 2022, 5:37 a.m. | Last Modified: 14 Jan 2022, 5:37 a.m.
Panel Version: 0.2208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dandy-Walker malformation, no OMIM #

Publications

Created: 14 Jan 2022, 5:37 a.m.
Last Modified: 14 Jan 2022, 5:37 a.m.
Panel version: 0.2208

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Brain malformation renal syndrome, MIM# 620943
OMIM
616927
Clinvar variants
Variants in EXOC3L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation, MONDO:0009072; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, MIM# 620943

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exoc3l2 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Dandy-Walker malformation, MONDO:0009072; Meckel-Gruber-like syndrome

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448

14 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: exoc3l2 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EXOC3L2 was added gene: EXOC3L2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; Meckel-Gruber-like syndrome