Proteinuria

Gene: ANLN

Amber List (moderate evidence)

ANLN (anillin actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000011426
EnsemblGeneIds (GRCh37): ENSG00000011426
OMIM: 616027, Gene2Phenotype
ANLN is in 2 panels

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

I don't know

Segregated in 2 families reported with FSGS, functional were performed (PMID: 24676636; 30002222 - same group). However, the segregation of G618C is not informative as the only affected tested was the proband, the other 2 were not genotyped (deceased). In addition, the R431C has 5 hets in the pop, as well as an alternative change. Therefore, the evidence for pathogenicity of both variants is conflicting, and the association with FSGS remains NOT established.
Created: 15 May 2020, 8:19 a.m. | Last Modified: 15 May 2020, 8:19 a.m.
Panel Version: 0.109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal segmental glomerulosclerosis 8 616032

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2 families report with functional evidence.
Created: 9 Jan 2020, 9:49 a.m. | Last Modified: 9 Jan 2020, 9:49 a.m.
Panel Version: 0.732

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal segmental glomerulosclerosis 8, OMIM #616032

Publications

Chirag Patel (Genetic Health Queensland)

I don't know

2 families report with functional evidence.
Created: 9 Jan 2020, 3:19 a.m. | Last Modified: 9 Jan 2020, 3:19 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal segmental glomerulosclerosis 8, OMIM #616032

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal segmental glomerulosclerosis 8, OMIM #616032
OMIM
616027
Clinvar variants
Variants in ANLN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANLN were changed from Focal segmental glomerulosclerosis 8, OMIM #616032 to Focal segmental glomerulosclerosis 8, OMIM #616032

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032

14 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANLN were set to

14 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANLN was added gene: ANLN was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANLN was set to Unknown