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  2. Unexplained kidney failure in young people
  3. ACTN4
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Unexplained kidney failure in young people

Gene: ACTN4

Green List (high evidence)
ACTN4 (actinin alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000130402
EnsemblGeneIds (GRCh37): ENSG00000130402
OMIM: 604638, Gene2Phenotype
ACTN4 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reported
Created: 4 Aug 2016, 10:02 a.m.
Created: 4 Aug 2016, 10:02 a.m.

Panel version: 0.151

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
OMIM
604638
Clinvar variants
Variants in ACTN4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACTN4 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

26 Jun 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACTN4 were set to 10700177; 26301083; 16251236

20 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACTN4 were set to Glomerulosclerosis, focal segmental, 1 603278

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ACTN4 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing,Expert Review Green

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ACTN4 was created by sleigh