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Haematological malignancies for rare disease

Gene: PAX5

Green List (high evidence)
PAX5 (paired box 5)
EnsemblGeneIds (GRCh38): ENSG00000196092
EnsemblGeneIds (GRCh37): ENSG00000196092
OMIM: 167414, Gene2Phenotype
PAX5 is in 4 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 26 Jul 2017, 11:15 a.m.

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • PAX5-related familial ALL, Susceptibility to ALL 3
  • ALL, B-ALL
  • No other known cancer risks
OMIM
167414
Clinvar variants
Variants in PAX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX5 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

PAX5 was created by Ellen McDonagh