Cystic kidney disease
Gene: PAX2
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
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: 22213154Created: 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
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 GMSCreated: 7 Jul 2022, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cystic renal disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_22_rating was removed from gene: PAX2. Tag Q3_22_NHS_review was removed from gene: PAX2.
Source Expert Review Green was added to PAX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: PAX2 were set to PMID: 33746522; 16049068; 22213154
Phenotypes for gene: PAX2 were changed from cystic renal disease to Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352
Mode of inheritance for gene: PAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pax2 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: PAX2. Tag Q3_22_NHS_review tag was added to gene: PAX2.
gene: PAX2 was added gene: PAX2 was added to Cystic kidney disease. Sources: NHS GMS Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX2 were set to PMID: 33746522; 16049068; 22213154 Phenotypes for gene: PAX2 were set to cystic renal disease Penetrance for gene: PAX2 were set to unknown Review for gene: PAX2 was set to GREEN gene: PAX2 was marked as current diagnostic