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| Proteinuric renal disease v4.12 | RCAN1 |
Achchuthan Shanmugasundram commented on gene: RCAN1: As reviewed by Zornitza Stark, whole-genome sequencing performed on 320 individuals from 201 families with familial and sporadic nephrotic syndrome (NS)/ focal segmental glomerulosclerosis (FSGS) identified two variants in RCAN1 gene in two families with autosomal dominant FSGS/ steroid-resistant nephrotic syndrome (SRNS). In addition, there is some functional data available. This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype. This gene can be rated amber with current evidence. |
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| Proteinuric renal disease v4.12 | RCAN1 | Achchuthan Shanmugasundram Classified gene: RCAN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.12 | RCAN1 | Achchuthan Shanmugasundram Gene: rcan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.11 | RCAN1 | Achchuthan Shanmugasundram Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to focal segmental glomerulosclerosis, MONDO:0100313; nephrotic syndrome, MONDO:0005377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.10 | RCAN1 | Achchuthan Shanmugasundram reviewed gene: RCAN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: focal segmental glomerulosclerosis, MONDO:0100313, nephrotic syndrome, MONDO:0005377; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.50 | RCAN1 |
Zornitza Stark gene: RCAN1 was added gene: RCAN1 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RCAN1 were set to 33863784 Phenotypes for gene: RCAN1 were set to FSGS; proteinuria Review for gene: RCAN1 was set to AMBER Added comment: Two families reported, some functional data. Sources: Literature |
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