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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. EXOC3L2
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort.
Sources: Literature
Created: 21 Dec 2019, 6:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain malformation renal syndrome, MIM# 620943

Publications

Created: 21 Dec 2019, 6:29 a.m.

Panel version: 0.138

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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; renal dysplasia; bone marrow failure to Brain malformation renal syndrome, MIM# 620943

21 Dec 2019, 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).

21 Dec 2019, 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).

21 Dec 2019, Gel status: 1

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 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 30327448; 28749478; 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure Review for gene: EXOC3L2 was set to GREEN