Proteinuric renal disease

Gene: ACTN4

Green List (high evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: ACTN4; Suggested initial gene rating: green; Evidence for inclusion: PMID: 29043128; Other comments: Sporadic or inherited

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomerulosclerosis, focal segmental, 1 #603278

Publications

• PMID: 29043128

Variants in this GENE are reported as part of current diagnostic practice

Comment on mode of pathogenicity: Disease in humans is associated with heterozygous gain of function variants. However biallelic knockout mice also develop renal disease.

Created: 15 Apr 2016, 10:41 a.m.

Comment on list classification: Current diagnostic

Created: 15 Apr 2016, 10:41 a.m.

Green List (high evidence)

Can be familial or sporadic

Created: 19 Oct 2015, 1:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FSGS, SRNS

Publications

• J Am Soc Nephrol 16: 3694–3701, 2005. doi: 10.1681/ASN.2005070706

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Disease in humans is associated with heterozygous gain of function variants. However biallelic knockout mice also develop renal disease.

Created: 7 Oct 2015, 10:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FSGS; proteinuria; renal failure

Publications

• PubMed: 10700177
• 26301083

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice