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Mendeliome

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 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

Details

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

9 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation, MONDO:0009072; 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 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EXOC3L2 was set to Unknown