Cytopenia - NOT Fanconi anaemia
Gene: TP53
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is associated with breast cancer rather than cytopeniaCreated: 22 Jul 2019, 2:57 p.m. | Last Modified: 22 Jul 2019, 2:57 p.m.
Panel Version: 0.118
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 initial 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: 618165 Bone marrow failure syndrome 5; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
Gene rating submitted 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.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
618165 Bone marrow failure syndrome 5
Gene: tp53 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: tp53 has been classified as Green List (High Evidence).
Added phenotypes 618165 Bone marrow failure syndrome 5 for gene: TP53
Source NHS GMS was added to TP53.
gene: TP53 was added gene: TP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: TP53 was set to