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Combined factor V and VIII deficiency v1.6 MCFD2 Arina Puzriakova Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625; 227300 Combined factor V and VIII deficiency; 613625 Factor V and factor VIII, combined deficiency of to Factor V and factor VIII, combined deficiency of, OMIM:613625
Combined factor V and VIII deficiency v0.19 MCFD2 Louise Daugherty commented on gene: MCFD2: 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: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Combined factor V and VIII deficiency v0.18 MCFD2 Steve Keeney reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Combined factor V and VIII deficiency v0.17 MCFD2 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: MCFD2
Combined factor V and VIII deficiency v0.16 MCFD2 Louise Daugherty Source North West GLH was added to MCFD2.
Combined factor V and VIII deficiency v0.15 MCFD2 Louise Daugherty commented on gene: MCFD2: 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: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Combined factor V and VIII deficiency v0.14 MCFD2 Mandy nesbitt reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined factor V and VIII deficiency v0.13 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Combined factor V and VIII deficiency v0.12 MCFD2 Louise Daugherty Source Yorkshire and North East GLH was added to MCFD2.
Combined factor V and VIII deficiency v0.11 MCFD2 Michael Mitchell reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Combined factor V and VIII deficiency v0.10 MCFD2 Louise Daugherty edited their review of gene: MCFD2: Added comment: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted; Changed rating: AMBER
Combined factor V and VIII deficiency v0.9 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Combined factor V and VIII deficiency v0.7 MCFD2 Louise Daugherty Source London South GLH was added to MCFD2.
Combined factor V and VIII deficiency v0.6 MCFD2 Louise Daugherty reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Combined factor V and VIII deficiency v0.5 MCFD2 Carl Fratter reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Combined factor V and VIII deficiency v0.4 MCFD2 Louise Daugherty Source NHS GMS was added to MCFD2.
Combined factor V and VIII deficiency v0.3 MCFD2 Louise Daugherty Source Expert Review Green was added to MCFD2.
Mode of inheritance for gene MCFD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Factor V and factor VIII, combined deficiency of, 613625 for gene: MCFD2
Publications for gene MCFD2 were changed from to 20004600; 12717434; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Combined factor V and VIII deficiency v0.2 MCFD2 Louise Daugherty gene: MCFD2 was added
gene: MCFD2 was added to Combined factor V and VIII deficiency. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MCFD2 was set to