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Proteinuric renal disease v2.68 | DGKE | Eleanor Williams Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7 #615008 to Nephrotic syndrome, type 7, OMIM:615008 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.67 | DGKE | Eleanor Williams Tag for-review was removed from gene: DGKE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.66 | DGKE | Eleanor Williams commented on gene: DGKE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note and overlap with aHUS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.65 | DGKE |
Eleanor Williams Source Expert Review Green was added to DGKE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Proteinuric renal disease v2.30 | DGKE | Catherine Snow Classified gene: DGKE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.30 | DGKE | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.30 | DGKE | Catherine Snow Gene: dgke has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.26 | DGKE | Eleanor Williams Tag for-review tag was added to gene: DGKE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.15 | DGKE | Eleanor Williams Classified gene: DGKE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.15 | DGKE | Eleanor Williams Added comment: Comment on list classification: Changing rating to green as multiple cases reported and expert review says proteinuria is a prominent feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.15 | DGKE | Eleanor Williams Gene: dgke has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.14 | DGKE | Eleanor Williams Mode of inheritance for gene: DGKE was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.6 | DGKE | Catherine Snow Classified gene: DGKE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.6 | DGKE | Catherine Snow Gene: dgke has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.0 | DGKE |
Eleanor Williams edited their review of gene: DGKE: Added comment: Associated with Nephrotic syndrome, type 7 #615008 (AR) in OMIM. PMID: 23542698 - Lemaire et al 2013 - 9 families identified with homozgyous or compound heterozygous variants in DGKE. All were cases of pediatric-onset aHUS. One variant was found in on both alleles in 3 families (p.Trp322*) and heterozygously in 2 others and the families are thought to have a remote shared ancestry. Three patients from different families developed nephrotic syndrome 3-5 years after disease onset. PMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals. Table 1 gives proteinuria levels at onset.; Changed publications: PMID: 23274426, PMID: 23542698 |
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Proteinuric renal disease v2.0 | DGKE | Zornitza Stark reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542698, 23274426; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.144 | DGKE | Eleanor Williams Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7 #615008 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.143 | DGKE | Eleanor Williams Publications for gene: DGKE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.16 | DGKE | Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 23274426, PMID: 23542698; Phenotypes: Nephrotic syndrome, type 7 #615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | DGKE |
Eleanor Williams gene: DGKE was added gene: DGKE was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: DGKE was set to |