Proteinuric renal disease

Gene: PTPRO

I don't know

Two unrelated families, Amber on our panel.

Created: 9 Jan 2020, 3:52 a.m. | Last Modified: 9 Jan 2020, 3:52 a.m.

Panel Version: 2.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 6 #614196

Publications

• 21722858
• 30065916

I don't know

Comment on list classification: Changing rating from red to amber. 2 families reported.

Created: 21 Mar 2020, 2:30 p.m. | Last Modified: 21 Mar 2020, 2:30 p.m.

Panel Version: 2.10

Associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM.

2 families:

PMID: 21722858 - Ozaltin et al 2011 - 2 Turkish families reported, total of 5 individuals. A region of homozygosity was identified in a consangiuneous family with Idiopathic nephrotic syndrome. By direct sequencing of PTPRO a homozygous c.2627+1G>T donor splice-site mutation was identified. In a second family, a c.2745+1G>A donor splice-site mutation in PTPRO was identified. Electron microscopy identified ultrastructural alterations in podocytes in both families.

PMID: 30065916 - Trautmann et al 2018 - PodoNet Registry paper - describes the same families as Ozaltin et al.

Created: 30 Jan 2020, 2:24 p.m. | Last Modified: 30 Jan 2020, 2:24 p.m.

Panel Version: 2.0

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: PTPRO; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 21722858; PMID: 30065916 ; Other comments: Amber: 5 patients from two unrelated families detected in PODONET study

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 6 #614196

Publications

• PMID: 21722858
• PMID: 30065916

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

Comment on list classification: Only 2 families reported so far. Add to panel if more found.

Created: 27 May 2016, 12:47 p.m.

Green List (high evidence)

Currently on UK diagnostic panel, 2 VUS, but no positive cases over 300 tested. Listed in several reviews

Created: 19 Oct 2015, 3:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood-Onset Nephrotic Syndrome

Publications

• The American Journal of Human Genetics 89, 139–147, July 15, 2011

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