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  2. Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)
  3. PAX5
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Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #615545) and the OMIM record was last accessed on 20 December 2025.
Created: 20 Dec 2025, 6:35 p.m. | Last Modified: 20 Dec 2025, 6:35 p.m.
Panel Version: 1.3
PAX5 has been added to the panel for R366 Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:20 p.m. | Last Modified: 30 Jun 2023, 2:20 p.m.
Panel Version: 0.1

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

Created: 30 Jun 2023, 2:20 p.m.
Last Modified: 30 Jun 2023, 2:20 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Leukemia, acute lymphoblastic, susceptibility to, 3}, OMIM:615545
  • leukemia, acute lymphoblastic, susceptibility to, 3, MONDO:0014241
OMIM
167414
Clinvar variants
Variants in PAX5
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PAX5 were changed from to {Leukemia, acute lymphoblastic, susceptibility to, 3}, OMIM:615545; leukemia, acute lymphoblastic, susceptibility to, 3, MONDO:0014241

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PAX5 was added gene: PAX5 was added to Inherited susceptibility to acute lymphoblastoid leukaemia (ALL). Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown