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| Cytopenia - NOT Fanconi anaemia v0.31 | ELANE | Louise Daugherty commented on gene: ELANE: 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: ELANE; 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, imprinted status unknown; Phenotypes: Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | ELANE | Steve Keeney reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | ELANE | Louise Daugherty Added phenotypes Neutropenia, severe congenital 1, autosomal dominant, 202700; Neutropenia, cyclic, 162800 for gene: ELANE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | ELANE | Louise Daugherty Source North West GLH was added to ELANE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | ELANE | Louise Daugherty commented on gene: ELANE: 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: ELANE; 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: 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | ELANE | Mandy nesbitt reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant, 162800 Neutropenia, cyclic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | ELANE | Louise Daugherty Added phenotypes 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic for gene: ELANE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | ELANE | Louise Daugherty Source Yorkshire and North East GLH was added to ELANE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | ELANE | Louise Daugherty commented on gene: ELANE: 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: ELANE; Suggested intial 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: 162800 Cyclic neutropenia;202700 Neutropenia, severe congenital 1; PMID(s): 10581030; 11001877; 18028488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | ELANE | Frances Smith reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 162800 Cyclic neutropenia, 202700 Neutropenia, severe congenital 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | ELANE |
Louise Daugherty Added phenotypes 202700 Neutropenia, severe congenital 1; 162800 Cyclic neutropenia for gene: ELANE Publications for gene ELANE were changed from 10581030; 11675333 to 18028488; 11001877; 10581030 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | ELANE | Louise Daugherty Source London South GLH was added to ELANE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | ELANE | Louise Daugherty reviewed gene: ELANE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | ELANE | Carl Fratter reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | ELANE | Louise Daugherty Source NHS GMS was added to ELANE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | ELANE |
Louise Daugherty Source Expert Review Green was added to ELANE. Mode of inheritance for gene ELANE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neutropenia, cyclic 162800; Neutropenia, severe congenital 1, autosomal dominant 202700 for gene: ELANE Publications for gene ELANE were changed from to 10581030; 11675333 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | ELANE |
Louise Daugherty gene: ELANE was added gene: ELANE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ELANE was set to |
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