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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 v1.5 | LMAN1 | Arina Puzriakova Phenotypes for gene: LMAN1 were changed from 227300 Combined factor V and VIII deficiency; Combined factor V and VIII deficiency, 227300 to Combined factor V and VIII deficiency, OMIM:227300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined factor V and VIII deficiency v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined factor V and VIII deficiency v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined factor V and VIII deficiency v0.23 | Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined factor V and VIII deficiency v0.22 | Louise Daugherty List of related panels changed from to R124 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.19 | LMAN1 | Louise Daugherty commented on gene: LMAN1: 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: LMAN1; 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 v0.18 | LMAN1 | Steve Keeney reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; 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 v0.17 | LMAN1 | Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.16 | LMAN1 | Louise Daugherty Source North West GLH was added to LMAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.15 | LMAN1 | Louise Daugherty commented on gene: LMAN1: 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: LMAN1; 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: 227300 Combined factor V and VIII deficiency; 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 v0.14 | LMAN1 | Mandy nesbitt reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; 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 v0.13 | LMAN1 | Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.12 | LMAN1 | Louise Daugherty Source Yorkshire and North EastGLH was added to LMAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.11 | LMAN1 | Michael Mitchell reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; 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 v0.10 | LMAN1 | Louise Daugherty edited their review of gene: LMAN1: 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: LMAN1; 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: 227300 Combined factor V and VIII deficiency; 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 v0.9 | LMAN1 | Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.7 | LMAN1 | Louise Daugherty Source London South GLH was added to LMAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.6 | LMAN1 | Louise Daugherty reviewed gene: LMAN1: 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 v0.5 | LMAN1 | Carl Fratter reviewed gene: LMAN1: 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 v0.4 | LMAN1 | Louise Daugherty Source NHS GMS was added to LMAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| Combined factor V and VIII deficiency v0.3 | LMAN1 |
Louise Daugherty Source Expert Review Green was added to LMAN1. Mode of inheritance for gene LMAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined factor V and VIII deficiency, 227300 for gene: LMAN1 Publications for gene LMAN1 were changed from to 10090934; 10090935; 16304051 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| 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 |
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| Combined factor V and VIII deficiency v0.2 | LMAN1 |
Louise Daugherty gene: LMAN1 was added gene: LMAN1 was added to Combined factor V and VIII deficiency. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LMAN1 was set to |
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| Combined factor V and VIII deficiency v0.0 |
Ellen McDonagh Added Panel Combined factor V and VIII deficiency Set panel types to: GMS Rare Disease |
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