| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Proteinuric renal disease v1.50 | CRB2 | Eleanor Williams Phenotypes for gene: CRB2 were changed from steroid resistant nephrotic syndrome to steroid resistant nephrotic syndrome; Focal segmental glomerulosclerosis 9 #616220; Ventriculomegaly with cystic kidney disease #219730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.49 | CRB2 | Eleanor Williams Publications for gene: CRB2 were set to 25557779; 27942854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.48 | CRB2 | Eleanor Williams Classified gene: CRB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.48 | CRB2 | Eleanor Williams Added comment: Comment on list classification: > 3 unrelated cases with plausible disease causing variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.48 | CRB2 | Eleanor Williams Gene: crb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.47 | CRB2 |
Eleanor Williams edited their review of gene: CRB2: Added comment: Associated with Focal segmental glomerulosclerosis 9 (616220) and Ventriculomegaly with cystic kidney disease (219730) in OMIM. PMID: 25557779 - Ebarasi et al 2015 - recessive CRB2 variants were detected in 4 unrelated families (2 from Turkey, 2 from Europe). 3 families had parental consanguinity and were homozygous for the variants. In the other family compound heterozgyous variants in CRB2 were detected. Mutations in the first 2 families were found by homozygosity mapping and/or whole-exome sequencing; mutations in the second 2 families were found by sequencing the CRB2 gene in 1,010 families with steroid-resistant nephrotic syndrome. 3 of the mutations occurred at highly conserved residues in the tenth EGF-like domain; and functional studies showed that in crb2-null zebrafish 2 of these mutations resulted in loss of protein function. PMID: 27942854 - Udagawa et al 2017 - Whole exome sequencing was performed in a 3-year-old girl with SRNS and identified novel compound heterozygous mutations in exons 10 and 12 of CRB2 (p.Trp1086ArgfsX64 and p.Asn1184Thr). Renal pathology showed focal segmental glomerulosclerosis with effaced podocyte foot processes in a small area, with significantly decreased Crb2 expression PMID: 29473663 - Watanabe et al 2018 - report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp).; Changed publications: PMID: 25557779, PMID: 29473663; Changed phenotypes: Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730 |
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| Proteinuric renal disease v1.16 | CRB2 | Eleanor Williams reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 25557779, PMID: 29473663; Phenotypes: Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | CRB2 |
Eleanor Williams Source NHS GMS was added to CRB2. Rating Changed from No List (delete) to Red List (low evidence) |
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| Proteinuric renal disease v1.11 | CRB2 |
John Sayer gene: CRB2 was added gene: CRB2 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557779; 27942854 Phenotypes for gene: CRB2 were set to steroid resistant nephrotic syndrome Penetrance for gene: CRB2 were set to Complete Review for gene: CRB2 was set to GREEN Added comment: Sources: Literature |
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