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Bleeding and platelet disorders v1.33 | PRKACG | Arina Puzriakova Tag for-review was removed from gene: PRKACG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.33 | PRKACG | Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that PRKACG should be Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.33 | PRKACG | Arina Puzriakova commented on gene: PRKACG: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.32 | PRKACG |
Arina Puzriakova Source Expert Review Red was added to PRKACG. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Bleeding and platelet disorders v1.19 | PRKACG | Kate Downes reviewed gene: PRKACG: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25061177; Phenotypes: Macrothrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.16 | PRKACG | Arina Puzriakova Phenotypes for gene: PRKACG were changed from 616176BLEEDING DISORDER, PLATELET-TYPE, 19; 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 to ?Bleeding disorder, platelet-type, 19, OMIM:616176; Platelet-type bleeding disorder 19, MONDO:0014518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.15 | PRKACG | Arina Puzriakova Publications for gene: PRKACG were set to 25061177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.14 | PRKACG | Arina Puzriakova Classified gene: PRKACG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.14 | PRKACG | 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. Based on literature, only sufficient for an Amber/Red rating. Will be flagged for review at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.14 | PRKACG | Arina Puzriakova Gene: prkacg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.13 | PRKACG | Arina Puzriakova Tag for-review tag was added to gene: PRKACG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.6 | PRKACG | Zornitza Stark reviewed gene: PRKACG: Rating: RED; Mode of pathogenicity: None; Publications: 25061177, 30819905; Phenotypes: Bleeding disorder, platelet-type, 19, MIM# 616176; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | PRKACG | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | PRKACG | Louise Daugherty commented on gene: PRKACG: 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: PRKACG; 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: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.27 | PRKACG | Steve Keeney reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176 BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.26 | PRKACG | Louise Daugherty Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.24 | PRKACG | Louise Daugherty Source North West GLH was added to PRKACG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.23 | PRKACG | Louise Daugherty commented on gene: PRKACG: 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: PRKACG; 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: 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.22 | PRKACG | Mandy nesbitt reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.21 | PRKACG | Louise Daugherty Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.19 | PRKACG | Louise Daugherty Source Yorkshire and North East GLH was added to PRKACG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.14 | PRKACG | Louise Daugherty commented on gene: PRKACG: 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: PRKACG; 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: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.10 | PRKACG | Louise Daugherty commented on gene: PRKACG: 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: PRKACG; 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: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.9 | PRKACG | Michael Mitchell reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.8 | PRKACG | Louise Daugherty Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.7 | PRKACG | Louise Daugherty Source London South GLH was added to PRKACG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.6 | PRKACG | Louise Daugherty reviewed gene: PRKACG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.5 | PRKACG | Carl Fratter reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.4 | PRKACG | Louise Daugherty Source NHS GMS was added to PRKACG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.3 | PRKACG |
Louise Daugherty Source Expert Review Green was added to PRKACG. Mode of inheritance for gene PRKACG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG Publications for gene PRKACG were changed from to 25061177 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Bleeding and platelet disorders v0.2 | PRKACG |
Louise Daugherty gene: PRKACG was added gene: PRKACG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PRKACG was set to |