Proteinuric renal disease
Gene: ACTN4
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 inheritedCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glomerulosclerosis, focal segmental, 1 #603278
Publications
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 diagnosticCreated: 15 Apr 2016, 10:41 a.m.
Can be familial or sporadicCreated: 19 Oct 2015, 1:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FSGS, SRNS
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1 603278
Publications for gene: ACTN4 were set to 10700177; 26301083; J Am Soc Nephrol 16: 3694–3701, 2005. doi: 10.1681/ASN.2005070706; 29043128
Publications for gene: ACTN4 were set to 10700177; 26301083; J Am Soc Nephrol 16: 3694–3701, 2005. doi: 10.1681/ASN.2005070706; 29043128
Publications for gene: ACTN4 were set to PubMed: 10700177; 26301083; J Am Soc Nephrol 16: 3694–3701, 2005. doi: 10.1681/ASN.2005070706
Source NHS GMS was added to ACTN4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for ACTN4 were set to PubMed: 10700177; 26301083; J Am Soc Nephrol 16: 3694–3701, 2005. doi: 10.1681/ASN.2005070706
Mode of pathogenicity for ACTN4 was changed to Other - please provide details in the comments
Mode of inheritance for ACTN4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
ACTN4 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ACTN4 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing