PanelApp (staging)
  1. Genes and Genomic Entities
  2. PAX2

PAX2

paired box 2
OMIM: 167409, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PAX2 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Papillorenal syndrome, MIM# 120330
  • Renal coloboma syndrome, MONDO:0007352

Green PAX2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.119

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PAX2 in Mendeliome


    Version 1.2302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Papillorenal syndrome, MIM# 120330
    • Renal coloboma syndrome, MONDO:0007352
    • Glomerulosclerosis, focal segmental, 7 - MIM#616002

    Green PAX2 in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.229

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glomerulosclerosis, focal segmental, 7, MIM#616002

    Amber PAX2 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Papillorenal syndrome, MIM# 120330

    Red PAX2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Papillorenal syndrome, MIM#120330

    Green PAX2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Papillorenal syndrome, MIM# 120330

    Green PAX2 in Fetal anomalies


    Version 1.313

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Papillorenal syndrome, MIM# 120330
    • Renal coloboma syndrome, MONDO:0007352