Inherited predisposition to acute myeloid leukaemia (AML)

Gene: TP53

Green List (high evidence)

TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 25 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with {Adrenocortical carcinoma, pediatric} (MIM#202300); {Basal cell carcinoma 7} (MIM# 614740), {Choroid plexus papilloma} (MIM# 260500); {Colorectal cancer}, (MIM# 114500); {Glioma susceptibility 1} (MIM# 137800); {Osteosarcoma} (MIM# 259500); Bone marrow failure syndrome 5 (MIM# 618165); Breast cancer, somatic (MIM# 114480); Hepatocellular carcinoma, somatic (MIM# 114550); Nasopharyngeal carcinoma, somatic (MIM# 607107); Pancreatic cancer, somatic (MIM# 260350)
Created: 3 Mar 2021, 5:31 p.m. | Last Modified: 3 Mar 2021, 5:31 p.m.
Panel Version: 1.14

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
151623 Li-Fraumeni syndrome

Variants in this GENE are reported as part of current diagnostic practice

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 2:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
151623 Li-Fraumeni syndrome

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Created: 18 Mar 2019, 4:43 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted
Created: 18 Feb 2019, 2:12 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted
Created: 14 Feb 2019, 2:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? not submitted; MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 (OMIM phenotype description ID); PMID(s): 28600339
Created: 5 Feb 2019, 8:10 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating (none submitted) by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 8:08 p.m.

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TP53 were changed from 151623 (OMIM phenotype description ID); 151623 Li-Fraumeni syndrome to Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome 1, MONDO:0007903

18 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tp53 has been classified as Amber List (Moderate Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53

18 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to TP53.

14 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53

14 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TP53.

5 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TP53. Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53

5 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TP53. Mode of inheritance for gene TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53 Publications for gene TP53 were changed from to 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TP53 was added gene: TP53 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TP53 was set to