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Ciliopathies
Gene: EXOC3L2

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 patients from two unrelated families with hindbrain abnormalities, kidney and bone marrow development; some identified in a ciliopathy cohort, and some in a perinatal autopsy cohort.
Created: 21 Nov 2019, 9:30 a.m. | Last Modified: 21 Nov 2019, 9:30 a.m.

Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain malformation renal syndrome, MIM# 620943

Publications

Created: 21 Nov 2019, 9:30 a.m.
Last Modified: 21 Nov 2019, 9:30 a.m.
Panel version: 1.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Brain malformation renal syndrome, MIM# 620943

OMIM

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

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 Dandy-Walker malformation; renal dysplasia; bone marrow failure

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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure

21 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EXOC3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXOC3L2 were set to

21 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EXOC3L2 was added gene: EXOC3L2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EXOC3L2 was set to Unknown