Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Inherited predisposition to acute myeloid leukaemia (AML) v1.6 CEBPA Arina Puzriakova Phenotypes for gene: CEBPA were changed from 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID); 116897 / 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to ?Leukemia, acute myeloid, OMIM:601626; Leukemia, acute myeloid, somatic, OMIM:601626; Acute myeloid leukemia, MONDO:0018874
Inherited predisposition to acute myeloid leukaemia (AML) v0.34 CEBPA Louise Daugherty Publications for gene: CEBPA were set to 15575056; 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Classified gene: CEBPA as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA 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) v0.17 CEBPA Louise Daugherty Gene: cebpa has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CEBPA Paula Page reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 116897, 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CEBPA Louise Daugherty commented on gene: CEBPA: 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: CEBPA; 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: 116897 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 CEBPA Steve Keeney reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 CEBPA Louise Daugherty Added phenotypes 116897 / 601626 Leukemia, acute myeloid, somatic for gene: CEBPA
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 CEBPA Louise Daugherty Source North West GLH was added to CEBPA.
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 CEBPA Louise Daugherty commented on gene: CEBPA: 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: CEBPA; 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: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 CEBPA Mandy nesbitt reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 CEBPA Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: CEBPA
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 CEBPA Louise Daugherty Source Yorkshire and North East GLH was added to CEBPA.
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 CEBPA Louise Daugherty reviewed gene: CEBPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 CEBPA Carl Fratter reviewed gene: CEBPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 CEBPA Louise Daugherty Source NHS GMS was added to CEBPA.
Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 CEBPA Louise Daugherty Source Expert Review Amber was added to CEBPA.
Mode of inheritance for gene CEBPA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA
Publications for gene CEBPA were changed from to 15575056; 23926458
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 CEBPA Louise Daugherty gene: CEBPA was added
gene: CEBPA was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CEBPA was set to