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| Cystic kidney disease v3.4 | PAX2 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: PAX2. Tag Q3_22_NHS_review was removed from gene: PAX2. |
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| Cystic kidney disease v3.4 | PAX2 | Achchuthan Shanmugasundram reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v3.3 | PAX2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PAX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cystic kidney disease v2.49 | PAX2 |
Eleanor Williams changed review comment from: 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.; to: 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 |
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| Cystic kidney disease v2.49 | PAX2 | Eleanor Williams Publications for gene: PAX2 were set to PMID: 33746522; 16049068; 22213154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.48 | PAX2 | Eleanor Williams Phenotypes for gene: PAX2 were changed from cystic renal disease to Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.47 | PAX2 | Eleanor Williams Mode of inheritance for gene: PAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.46 | PAX2 | Eleanor Williams Classified gene: PAX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.46 | PAX2 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.46 | PAX2 | Eleanor Williams Gene: pax2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.45 | PAX2 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: PAX2. Tag Q3_22_NHS_review tag was added to gene: PAX2. |
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| Cystic kidney disease v2.45 | PAX2 | Eleanor Williams reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22213154, 31060108; Phenotypes: Papillorenal syndrome, OMIM:120330, renal coloboma syndrome, MONDO:0007352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.45 | PAX2 |
Natalie Forrester 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 Added comment: 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 |
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