PAX5

paired box 5
OMIM: 167414, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PAX5 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
  • Victorian Clinical Genetics Services
Phenotypes
  • No other known cancer risks
  • ALL, B-ALL
  • Class: familial predisp to leukaemia (typ AD)
  • PAX5-related familial ALL, Susceptibility to ALL 3

Green PAX5 in Mendeliome


Version 2.588

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, PAX5-related
  • Hypogammaglobulinaemia

Green PAX5 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.2

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545

Amber PAX5 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, PAX5-related
    • Hypogammaglobulinaemia

    Green PAX5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, PAX5-related
    • Hypogammaglobulinaemia

    Red PAX5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545