Renal and urinary tract disorders
Gene: ACTN4

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Updated phenotype to add missing MIM number
Created: 30 Jan 2019, 1:42 p.m.

Created: 30 Jan 2019, 1:42 p.m.

Panel version: 0.18

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: Imported from End-stage renal disease - childhood onset panel version 0.151

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Glomerulosclerosis, focal segmental, 1 603278

OMIM

604638

Clinvar variants

Variants in ACTN4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ACTN4 were changed from Glomerulosclerosis, focal segmental, 1 to Glomerulosclerosis, focal segmental, 1 603278

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ACTN4 was added gene: ACTN4 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTN4 were set to 26301083; 16251236; 10700177 Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1

Renal and urinary tract disorders Gene: ACTN4