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Bleeding and platelet disorders v1.33 NBEA Arina Puzriakova Tag for-review was removed from gene: NBEA.
Bleeding and platelet disorders v1.33 NBEA Arina Puzriakova commented on gene: NBEA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.32 NBEA Arina Puzriakova Source Expert Review Red was added to NBEA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bleeding and platelet disorders v1.17 NBEA Arina Puzriakova Classified gene: NBEA as Green List (high evidence)
Bleeding and platelet disorders v1.17 NBEA Arina Puzriakova Added comment: Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association and recurrence of heterozygous variants in control populations. Will be flagged for review at the next GMS panel update (added 'for-review' tag).
Bleeding and platelet disorders v1.17 NBEA Arina Puzriakova Gene: nbea has been classified as Green List (High Evidence).
Bleeding and platelet disorders v1.16 NBEA Arina Puzriakova Tag for-review tag was added to gene: NBEA.
Bleeding and platelet disorders v1.6 NBEA Zornitza Stark reviewed gene: NBEA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.52 NBEA Louise Daugherty edited their review of gene: NBEA: Changed rating: GREEN
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Classified gene: NBEA as Green List (high evidence)
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Gene: nbea has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.28 NBEA Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 NBEAL2 Louise Daugherty commented on gene: NBEAL2: 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: NBEAL2; 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: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 NBEA Louise Daugherty commented on gene: NBEA: 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: NBEA; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.27 NBEAL2 Steve Keeney reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 NBEA Steve Keeney reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.26 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.24 NBEAL2 Louise Daugherty Source North West GLH was added to NBEAL2.
Bleeding and platelet disorders v0.24 NBEA Louise Daugherty Source North West GLH was added to NBEA.
Bleeding and platelet disorders v0.23 NBEAL2 Louise Daugherty commented on gene: NBEAL2: 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: NBEAL2; Suggested intial 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: 139090 Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.22 NBEAL2 Mandy nesbitt reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.21 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.19 NBEAL2 Louise Daugherty Source Yorkshire and North East GLH was added to NBEAL2.
Bleeding and platelet disorders v0.14 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; 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: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; 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: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.9 NBEAL2 Michael Mitchell reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090, Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 NBEA Michael Mitchell reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.8 NBEAL2 Louise Daugherty Added phenotypes 139090, Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.7 NBEAL2 Louise Daugherty Source London South GLH was added to NBEAL2.
Bleeding and platelet disorders v0.7 NBEA Louise Daugherty Source London South GLH was added to NBEA.
Bleeding and platelet disorders v0.6 NBEAL2 Louise Daugherty reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 NBEA Louise Daugherty reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 NBEAL2 Carl Fratter reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 NBEA Carl Fratter reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 NBEAL2 Louise Daugherty Source NHS GMS was added to NBEAL2.
Bleeding and platelet disorders v0.4 NBEA Louise Daugherty Source NHS GMS was added to NBEA.
Bleeding and platelet disorders v0.3 NBEAL2 Louise Daugherty Source Expert Review Green was added to NBEAL2.
Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Publications for gene NBEAL2 were changed from to 21765412; 27870194; 21765411
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 NBEA Louise Daugherty Source Expert Review Green was added to NBEA.
Mode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene NBEA were changed from to 28748566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 NBEAL2 Louise Daugherty gene: NBEAL2 was added
gene: NBEAL2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBEAL2 was set to
Bleeding and platelet disorders v0.2 NBEA Louise Daugherty gene: NBEA was added
gene: NBEA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBEA was set to