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| Cytopenia - NOT Fanconi anaemia v0.68 | JAGN1 | Louise Daugherty Classified gene: JAGN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.68 | JAGN1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.68 | JAGN1 | Louise Daugherty Gene: jagn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.65 | JAGN1 | Louise Daugherty commented on gene: JAGN1: Discrepant reviews for JAGN1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | JAGN1 | Louise Daugherty commented on gene: JAGN1: 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: JAGN1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): 11101832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | JAGN1 | Steve Keeney reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | JAGN1 |
Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1 Publications for gene JAGN1 were changed from 25129144 to 11101832 |
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| Cytopenia - NOT Fanconi anaemia v0.27 | JAGN1 | Louise Daugherty Source North West GLH was added to JAGN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | JAGN1 | Louise Daugherty commented on gene: JAGN1: 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: JAGN1; 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: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | JAGN1 | Mandy nesbitt reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | JAGN1 | Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | JAGN1 | Louise Daugherty Source Yorkshire and North East GLH was added to JAGN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | JAGN1 |
Louise Daugherty Source Expert Review Green was added to JAGN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | JAGN1 |
Louise Daugherty Mode of inheritance for gene JAGN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | JAGN1 | Louise Daugherty reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | JAGN1 | Frances Smith reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | JAGN1 |
Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1 Publications for gene JAGN1 were changed from to 25129144 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | JAGN1 | Louise Daugherty Source NHS GMS was added to JAGN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | JAGN1 |
Louise Daugherty gene: JAGN1 was added gene: JAGN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: JAGN1 was set to |
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