Proteinuric renal disease

Gene: PAX2

Green List (high evidence)

Comment on list classification: > 3 cases where variants in this gene are associated with a relevant phenotype

Created: 1 Apr 2019, 8:39 p.m.

PAX2 is associated with Glomerulosclerosis, focal segmental, 7 (616002) and Papillorenal syndrome (120330) in OMIM.

OMIM list numerous cases of PAX2 variants in patients with Papillorenal Syndrome/Renal coloboma syndrome and with focal segmental glomerulosclerosis-7.

PMID: 26571382 - Okumura et al 2015 - 26 patients with Renal coloboma syndrome were screened. Patients with CHARGE, COACH and Jouberts syndrome were excluded. Analyzed the sequences of PAX2 and 25 other genes in 26 patients clinically diagnosed with RCS, and 4 optic nerve coloboma only patients as disease-negative controls. Six PAX2 mutations (3 frameshifts, 1 nonsense, 2 missense) in 11 probands; two in family cohorts [n = 5 and n = 2] and in 4 out of 19 patients with sporadic disease, including four novel mutations, were confirmed using Sanger sequencing.

Created: 1 Apr 2019, 8:39 p.m.

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: PAX2; Suggested initial gene rating: green; Evidence for inclusion: PMID: 26571382; Other comments: Multiple reports in the literature.

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomerulosclerosis, focal segmental, 7 #616002

Publications

• PMID: 26571382

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