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| Proteinuric renal disease v1.75 | PAX2 | Eleanor Williams Phenotypes for gene: PAX2 were changed from to Glomerulosclerosis, focal segmental, 7 #616002 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.74 | PAX2 | Eleanor Williams Publications for gene: PAX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.73 | PAX2 | Eleanor Williams Mode of inheritance for gene: PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.72 | PAX2 | Eleanor Williams Classified gene: PAX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.72 | PAX2 | Eleanor Williams Added comment: Comment on list classification: > 3 cases where variants in this gene are associated with a relevant phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.72 | PAX2 | Eleanor Williams Gene: pax2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.71 | PAX2 |
Eleanor Williams commented on gene: PAX2: 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. |
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| Proteinuric renal disease v1.16 | PAX2 | Eleanor Williams reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26571382; Phenotypes: Glomerulosclerosis, focal segmental, 7 #616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | PAX2 |
Eleanor Williams gene: PAX2 was added gene: PAX2 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: PAX2 was set to |
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