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| Proteinuric renal disease v3.3 | EMP2 |
Sarah Leigh Tag Q2_22_rating was removed from gene: EMP2. Tag Q2_22_expert_review was removed from gene: EMP2. |
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| Proteinuric renal disease v3.3 | EMP2 | Sarah Leigh reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v3.2 | EMP2 |
Sarah Leigh Source Expert Review Amber was added to EMP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Proteinuric renal disease v2.77 | EMP2 | Eleanor Williams Tag Q2_22_expert_review tag was added to gene: EMP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.76 | EMP2 | Eleanor Williams Classified gene: EMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.76 | EMP2 | Eleanor Williams Added comment: Comment on list classification: The rating of this gene has been left as green, but with a recommendation for demotion to amber following expert review of the evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.76 | EMP2 | Eleanor Williams Gene: emp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.75 | EMP2 | Eleanor Williams Tag Q2_22_rating tag was added to gene: EMP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.64 | EMP2 | Daniel Gale reviewed gene: EMP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31508419, 24814193, 29058154; Phenotypes: Proteinuric renal disease, Unexplained paediatric onset end-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.56 | EMP2 | Eleanor Williams Phenotypes for gene: EMP2 were changed from steroid sensitive nephrotic syndrome to steroid sensitive nephrotic syndrome; Nephrotic syndrome, type 10 #615861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.55 | EMP2 | Eleanor Williams Classified gene: EMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.55 | EMP2 | Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene which segregate with the condition, plus some functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.55 | EMP2 | Eleanor Williams Gene: emp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.54 | EMP2 |
Eleanor Williams commented on gene: EMP2: Associated with Nephrotic syndrome, type 10 615861 in OMIM. PMID 24814193 - Gee et al 2014 - performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. They found biallelic mutations in EMP2 (epithelial membrane protein 2) in four individuals from three unrelated families affected by SRNS or SSNS. Consanguineous Turkish family A1679 had a homozygous truncating variant (c.184C>T [p.Gln62∗]) in EMP2 which segregated in the condition. In another Turkish family (A150) the affected individual was compound heterozygous for 2 variants in EMP2 - 21C>G, p.Phe7Leu and c.184C>T, p.Gln62∗. In a third African-American family (A4601) the proband was homozygous for a missense mutation c.28G>A, p.Ala10Thr. All mutations were absent from >190 ethnically matched healthy control individuals and from >8,600 European control individuals in the NHLBI EVS Functional studies showed that EMP2 exclusively localized to glomeruli in the kidney. Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. Knockdown of EMP2 in podocytes and endothelial cells resulted in an increased amount of CAVEOLIN-1 and decreased cell proliferation. |
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| Proteinuric renal disease v1.16 | EMP2 | Eleanor Williams reviewed gene: EMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID24814193; Phenotypes: Nephrotic syndrome, type 10 #615861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | EMP2 |
Eleanor Williams Source NHS GMS was added to EMP2. Rating Changed from No List (delete) to Red List (low evidence) |
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| Proteinuric renal disease v1.11 | EMP2 |
John Sayer gene: EMP2 was added gene: EMP2 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: EMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMP2 were set to 24814193 Phenotypes for gene: EMP2 were set to steroid sensitive nephrotic syndrome Penetrance for gene: EMP2 were set to Complete Review for gene: EMP2 was set to GREEN Added comment: Sources: Literature |
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