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| Cytopenia - NOT Fanconi anaemia v0.86 | WIPF1 | Louise Daugherty Classified gene: WIPF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.86 | WIPF1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.86 | WIPF1 | Louise Daugherty Gene: wipf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | WIPF1 | Louise Daugherty commented on gene: WIPF1: 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: WIPF1; 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: Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | WIPF1 | Steve Keeney reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2, 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | WIPF1 | Louise Daugherty Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; ?Wiskott-Aldrich syndrome 2, 614493; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent for gene: WIPF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | WIPF1 | Louise Daugherty Source North West GLH was added to WIPF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | WIPF1 | Louise Daugherty reviewed gene: WIPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | WIPF1 | Carl Fratter reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | WIPF1 | Louise Daugherty Source NHS GMS was added to WIPF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | WIPF1 |
Louise Daugherty Source Expert Review Green was added to WIPF1. Mode of inheritance for gene WIPF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; ?Wiskott-Aldrich syndrome 2, 614493 for gene: WIPF1 Publications for gene WIPF1 were changed from to 27742395; 11869681; 22231303; 14757742; 9405671 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | WIPF1 |
Louise Daugherty gene: WIPF1 was added gene: WIPF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: WIPF1 was set to |
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