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| Mendeliome v1.4506 | RCAN1 | Lucy Spencer Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4505 | RCAN1 | Lucy Spencer edited their review of gene: RCAN1: Added comment: PMID: 33863784 both missense reported in this paper are present in gnomad, 1 with over 100 hets the other with over 1000. this gene is borderline red; Changed rating: AMBER; Changed publications: 33863784; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3283 | RCAN1 | Lucy Spencer reviewed gene: RCAN1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7541 | RCAN1 | Zornitza Stark Marked gene: RCAN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7541 | RCAN1 | Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7541 | RCAN1 | Zornitza Stark Classified gene: RCAN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7541 | RCAN1 | Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7540 | RCAN1 |
Zornitza Stark gene: RCAN1 was added gene: RCAN1 was added to Mendeliome. 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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