Proteinuria
Gene: ANLN
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
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
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
Gene: anln has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ANLN were changed from Focal segmental glomerulosclerosis 8, OMIM #616032 to Focal segmental glomerulosclerosis 8, OMIM #616032
Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Publications for gene: ANLN were set to
Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: anln has been classified as Amber List (Moderate Evidence).
Gene: anln has been classified as Amber List (Moderate Evidence).
Gene: anln has been classified as Amber List (Moderate Evidence).
Gene: anln has been classified as Amber List (Moderate Evidence).
Gene: anln has been classified as Amber List (Moderate Evidence).
Gene: anln has been classified as Amber List (Moderate Evidence).
Gene: anln has been classified as Amber List (Moderate Evidence).
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