Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Added comment: 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)
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova 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
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Deleted their comment
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Classified gene: TP53 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Added comment: 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.
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Classified gene: TP53 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Added comment: 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
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Gene: tp53 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TP53 Louise Daugherty commented on gene: TP53: 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
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 TP53 Steve Keeney reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 TP53 Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 TP53 Louise Daugherty Source North West GLH was added to TP53.
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 TP53 Louise Daugherty commented on gene: TP53: 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
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 TP53 Mandy nesbitt reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 TP53 Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 TP53 Louise Daugherty Source Yorkshire and North East GLH was added to TP53.
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 TP53 Louise Daugherty reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 TP53 Carl Fratter reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 TP53 Louise Daugherty Source NHS GMS was added to TP53.
Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 TP53 Louise Daugherty 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)
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 TP53 Louise Daugherty 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