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BabyScreen+ newborn screening

Gene: TP53

Green List (high evidence)

TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 18 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Definitive gene disease association
Solid and haematologic malignancy risk ++
EviQ: risk of cancer by 5years = 22%
Extensive screening from birth recommended
Created: 5 Dec 2022, 10:10 a.m. | Last Modified: 5 Dec 2022, 10:10 a.m.
Panel Version: 0.1154

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Li-Fraumeni syndrome MIM#151623

Publications

History Filter Activity

17 Jan 2023, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: TP53.

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tp53 has been classified as Green List (High Evidence).

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome to Li-Fraumeni syndrome MIM#151623

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TP53 were set to

6 Dec 2022, Gel status: 3

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TP53. Tag cancer tag was added to gene: TP53. Tag treatable tag was added to gene: TP53.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TP53 was added gene: TP53 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome