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  2. Cancer Predisposition_Paediatric
  3. PAX5
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Cancer Predisposition_Paediatric

Gene: PAX5

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families reported, p.Gly183Ser is recurrent, reported in 3/5.
Created: 2 Nov 2020, 2:50 a.m. | Last Modified: 2 Nov 2020, 2:50 a.m.
Panel Version: 0.90

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545

Publications

Created: 2 Nov 2020, 2:50 a.m.
Last Modified: 2 Nov 2020, 2:50 a.m.
Panel version: 0.90

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545
OMIM
167414
Clinvar variants
Variants in PAX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax5 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX5 were changed from to {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545

2 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX5 were set to

2 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX5 was added gene: PAX5 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX5 was set to Unknown