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| Cytopenia - NOT Fanconi anaemia v0.31 | HAX1 | Louise Daugherty commented on gene: HAX1: 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: HAX1; 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, 3 Autosomal Dominant;Neutropenia, severe congenital 3, autosomal recessive, 610738; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | HAX1 | Steve Keeney reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 3 Autosomal Dominant, Neutropenia, severe congenital 3, autosomal recessive, 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | HAX1 | Louise Daugherty Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | HAX1 | Louise Daugherty Source North West GLH was added to HAX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | HAX1 | Louise Daugherty commented on gene: HAX1: 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: HAX1; 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: 610738 Neutropenia, severe congenital 3, autosomal recessive; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | HAX1 | Mandy nesbitt reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | HAX1 | Louise Daugherty Added phenotypes 610738 Neutropenia, severe congenital 3, autosomal recessive for gene: HAX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | HAX1 | Louise Daugherty Source Yorkshire and North East GLH was added to HAX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | HAX1 | Louise Daugherty commented on gene: HAX1: 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: HAX1; 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: 610738 Neutropenia, severe congenital 3; PMID(s): 17187068; 18337561; 18611981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | HAX1 | Frances Smith reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | HAX1 |
Louise Daugherty Added phenotypes 610738 Neutropenia, severe congenital 3 for gene: HAX1 Publications for gene HAX1 were changed from 17187068; 10581030; 18024606; 18337561 to 18611981; 17187068; 18337561 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | HAX1 | Louise Daugherty Source London South GLH was added to HAX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | HAX1 | Louise Daugherty reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | HAX1 | Carl Fratter reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | HAX1 | Louise Daugherty Source NHS GMS was added to HAX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | HAX1 |
Louise Daugherty Source Expert Review Green was added to HAX1. Mode of inheritance for gene HAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1 Publications for gene HAX1 were changed from to 17187068; 10581030; 18024606; 18337561 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | HAX1 |
Louise Daugherty gene: HAX1 was added gene: HAX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HAX1 was set to |
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