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  3. EMP2
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Proteinuria

Gene: EMP2

Amber List (moderate evidence)
EMP2 (epithelial membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000213853
EnsemblGeneIds (GRCh37): ENSG00000213853
OMIM: 602334, Gene2Phenotype
EMP2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

4 cases from 3 unrelated families with nephrotic syndrome (NS) reported with homozygous or compound heterozygous variants in the gene. Knockdown of emp2 in zebrafish resulted in pericardial effusion, apparently consistent with NS. Whereas, global and podocyte-specific Emp2 knockout mice did not develop NS, showing no evidence of abnormal glomerular histology or ultrastructure. No other families/probands have been reported since the initial publication in 2014.
Created: 1 Apr 2022, 4:07 a.m. | Last Modified: 1 Apr 2022, 4:07 a.m.
Panel Version: 0.177

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nephrotic syndrome, type 10 MONDO:0014373

Publications

Created: 1 Apr 2022, 4:07 a.m.
Last Modified: 1 Apr 2022, 4:07 a.m.
Panel version: 0.177

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • nephrotic syndrome, type 10 MONDO:0014373
OMIM
602334
Clinvar variants
Variants in EMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: emp2 has been classified as Amber List (Moderate Evidence).

1 Apr 2022, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: EMP2 were changed from to nephrotic syndrome, type 10 MONDO:0014373

1 Apr 2022, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: EMP2 were set to

1 Apr 2022, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: emp2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EMP2 was added gene: EMP2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EMP2 was set to Unknown