Proteinuric renal disease
Gene: RCAN1EnsemblGeneIds (GRCh38): ENSG00000159200
EnsemblGeneIds (GRCh37): ENSG00000159200
OMIM: 602917, Gene2Phenotype
RCAN1 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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.Created: 12 Apr 2024, 12:41 p.m. | Last Modified: 12 Apr 2024, 12:41 p.m.
Panel Version: 4.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
focal segmental glomerulosclerosis, MONDO:0100313; nephrotic syndrome, MONDO:0005377
Zornitza Stark (Australian Genomics)
Two families reported, some functional data.
Sources: LiteratureCreated: 10 May 2021, 10:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FSGS; proteinuria
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- focal segmental glomerulosclerosis, MONDO:0100313
- nephrotic syndrome, MONDO:0005377
- OMIM
- 602917
- Clinvar variants
- Variants in RCAN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to focal segmental glomerulosclerosis, MONDO:0100313; nephrotic syndrome, MONDO:0005377
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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