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| Cytopenia - NOT Fanconi anaemia v0.31 | G6PC3 | Louise Daugherty commented on gene: G6PC3: 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: G6PC3; Suggested initial 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: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 4 Autosomal Dominant;Neutropenia, severe congenital 4, autosomal recessive, 612541;Dursun syndrome, 612541;Severe Congenital Neutropenia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | G6PC3 | Steve Keeney reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 4 Autosomal Dominant, Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | G6PC3 | Louise Daugherty Added phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | G6PC3 | Louise Daugherty Source North West GLH was added to G6PC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | G6PC3 | Louise Daugherty commented on gene: G6PC3: 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: G6PC3; Suggested initial 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: 612541 Neutropenia, severe congenital 4, autosomal recessive; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | G6PC3 | Mandy nesbitt reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | G6PC3 | Louise Daugherty Added phenotypes 612541 Neutropenia, severe congenital 4, autosomal recessive for gene: G6PC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | G6PC3 | Louise Daugherty Source Yorkshire and North East GLH was added to G6PC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | G6PC3 | Louise Daugherty commented on gene: G6PC3: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; 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: 612541 Neutropenia, severe congenital 4; PMID(s): 19696212; 20717171; 19118303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | G6PC3 | Frances Smith reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | G6PC3 |
Louise Daugherty Added phenotypes 612541 Neutropenia, severe congenital 4 for gene: G6PC3 Publications for gene G6PC3 were changed from 19118303 to 19696212; 19118303; 20717171 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | G6PC3 | Louise Daugherty Source London South GLH was added to G6PC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | G6PC3 | Louise Daugherty reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | G6PC3 | Carl Fratter reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | G6PC3 | Louise Daugherty Source NHS GMS was added to G6PC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | G6PC3 |
Louise Daugherty Source Expert Review Green was added to G6PC3. Mode of inheritance for gene G6PC3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3 Publications for gene G6PC3 were changed from to 19118303 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | G6PC3 |
Louise Daugherty gene: G6PC3 was added gene: G6PC3 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: G6PC3 was set to |
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