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  2. Proteinuria
  3. RCAN1
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Proteinuria

Gene: RCAN1

Amber List (moderate evidence)
RCAN1 (regulator of calcineurin 1)
EnsemblGeneIds (GRCh38): ENSG00000159200
EnsemblGeneIds (GRCh37): ENSG00000159200
OMIM: 602917, Gene2Phenotype
RCAN1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported, some functional data.
Sources: Literature
Created: 7 May 2021, 3:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FSGS; proteinuria

Publications

Created: 7 May 2021, 3:08 a.m.

Panel version: 0.166

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • FSGS
  • proteinuria
OMIM
602917
Clinvar variants
Variants in RCAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rcan1 has been classified as Amber List (Moderate Evidence).

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rcan1 has been classified as Amber List (Moderate Evidence).

7 May 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RCAN1 was added gene: RCAN1 was added to Proteinuria. 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