Cystic kidney disease

Gene: PAX2

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 4:25 p.m. | Last Modified: 30 Jan 2023, 4:25 p.m.

Panel Version: 3.4

Green List (high evidence)

Comment on list classification: Promoting this gene from grey to amber with a recommendation for green rating following GMS review. There are more than 3 cases reported where renal cysts are part of the phenotype.

Created: 30 Jul 2022, 4:22 p.m. | Last Modified: 30 Jul 2022, 4:22 p.m.

Panel Version: 2.46

As reviewer notes PAX2 is associated with Papillorenal syndrome #120330 (AD) in OMIM and Renal cysts and Multicystic dysplastic kidneys are listed as clinical features.

In PMID: 22213154 Bowers et al 2012 review of PAX2 variants found in patients with renal coloboma syndrome they note that renal cysts were found in 8% of patients (n = 13), and multicystic dysplastic kidneys in 6% (n = 7) from more than three unrelated families.

Deng et al 2019 - PMID: 31060108 examined the phenotypes of 10 children (one was Mongolian and the rest were of Han Chinese ethnicity) with PAX2 variants. Renal cysts were detected in five patients.

A further case of cystic renal disease in a patient with PAX2 variants are reported in PMID: 22213154

Created: 30 Jul 2022, 4:20 p.m. | Last Modified: 30 Jul 2022, 4:25 p.m.

Panel Version: 2.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352

Publications

• 22213154
• 31060108

Green List (high evidence)

PAX2 (OMIM 167409) is associated with Papillorenal syndrome, one feature of which can be renal cysts. Ocular involvement is common, but it is also noted that it can be mild/undetectable. In our NHSE lab we have identified a novel missense variant in a patient with cystic dysplastic kidneys. This was detected by Exomiser tiering by WGS and was reported as likely pathogenic. There are many reports in the literature of its association with renal disease, including cysts, and I expect that is the reason it is included on the R195 and R257 panels, but it also seems appropriate to be included on R193 where currently it is not even amber or red.
Sources: NHS GMS

Created: 7 Jul 2022, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cystic renal disease

Publications

• PMID: 33746522
• 16049068
• 22213154

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