Unexplained young onset end-stage renal disease
Gene: EMP2
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 12:54 p.m. | Last Modified: 31 Jan 2023, 12:54 p.m.
Panel Version: 2.6
Include on the Unexplained paediatric onset end-stage renal disease panel. Review from Moin Saleem and Caroline Platt, University of Bristol.Created: 25 Sep 2019, 10:58 a.m. | Last Modified: 25 Sep 2019, 10:58 a.m.
Panel Version: 0.42
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.Created: 21 May 2022, 11:58 p.m. | Last Modified: 21 May 2022, 11:58 p.m.
Panel Version: 1.37
In a review of this gene on the Proteinuric renal disease panel, Daniel Gale (UCL) states "A single study from 2014 (PMID: 24814193) reports biallelic (1 x nonsense and 2 x missense) rare EMP2 variants in 4 individuals with steroid sensitive nephrotic syndrome from 3 (out of 1600) nephrotic syndrome cases studied and this finding has not been replicated in further studies of SSNS (PMID: 29058154) or knockout mice (PMID: 31508419). Subsequent data from GnomAD does not show evidence of depletion of LoF or missense variation in this gene and no signal has been reported in gene-based burden or variant testing of large cohorts. Therefore further evidence is needed for biallelic mutations in this gene to be clinically reportable."Created: 21 May 2022, 11:57 p.m. | Last Modified: 21 May 2022, 11:57 p.m.
Panel Version: 1.36
Green on the Proteinuric renal disease panel.Created: 25 Sep 2019, 10:56 a.m. | Last Modified: 25 Sep 2019, 10:56 a.m.
Panel Version: 0.41
Tag Q2_22_rating was removed from gene: EMP2.
Source Expert Review Amber was added to EMP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Gene: emp2 has been classified as Green List (High Evidence).
Tag Q2_22_rating tag was added to gene: EMP2.
Tag Q2_21_rating was removed from gene: EMP2.
Tag Q2_21_rating tag was added to gene: EMP2.
gene: EMP2 was added gene: EMP2 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green 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; Nephrotic syndrome, type 10 #615861