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Inherited bleeding disorders v1.156 IKZF5 Louise Daugherty Classified gene: IKZF5 as Green List (high evidence)
Inherited bleeding disorders v1.156 IKZF5 Louise Daugherty Added comment: Comment on list classification: New gene added. Appropriate phenotype, sufficient cases and external expert review (pers.comm) all support gene-disease association and relevance to this panel to rate gene to Green.
Inherited bleeding disorders v1.156 IKZF5 Louise Daugherty Gene: ikzf5 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.155 IKZF5 Louise Daugherty gene: IKZF5 was added
gene: IKZF5 was added to Inherited bleeding disorders. Sources: Literature
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopenia
Review for gene: IKZF5 was set to GREEN
Added comment: From abstract Lentaigne C et al (2019) PMID: 31217188: To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing (WGS) data from 13,037 individuals enrolled in the NIHR BioResource, including 233 cases with isolated thrombocytopenia. We found an association between rare variants in the transcription factor (TF)-encoding gene IKZF5 and thrombocytopenia. We report five causal missense variants in or near IKZF5 zinc fingers (Znfs), of which two occurred de novo and three co-segregated in three pedigrees. A canonical DNA-Znf binding model predicts that three of the variants alter DNA recognition. Expression studies showed that chromatin binding was disrupted in mutant compared to wild-type (WT) IKZF5 and electron microscopy (EM) revealed a reduced quantity of alpha granules in normally sized platelets. Proplatelet formation (PPF) was reduced in megakaryocytes (MKs) from seven cases relative to six controls. Comparison of RNA-seq data from platelets, monocytes, neutrophils and CD4+ T-cells from three cases and 14 healthy controls showed 1,194 differentially expressed genes (DEGs) in platelets but only four DEGs in each of the other blood cell types. In conclusion, IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans.
Sources: Literature
Inherited bleeding disorders v1.153 ACTB Louise Daugherty Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 with macrothrombocytopenia to Baraitser-Winter syndrome 1 with macrothrombocytopenia; Platelet disorder
Inherited bleeding disorders v1.152 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Inherited bleeding disorders v1.152 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.151 ACTB Louise Daugherty gene: ACTB was added
gene: ACTB was added to Inherited bleeding disorders. Sources: Literature
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159; 22366783
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 with macrothrombocytopenia
Review for gene: ACTB was set to GREEN
Added comment: PMID: 30315159 describe six individuals from four unrelated families carrying de novo or co-segregating heterozygous variants in exons 5 and 6 of the ACTB gene. Patients are clinically distinct from those with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF), presenting with mild developmental disability, unspecific minor facial anomalies, microcephaly and thrombocytopenia with platelet anisotropy (variable size including normal and enlarged platelets).
Sources: Literature
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: Added watchlist tag.
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger Tag watchlist tag was added to gene: SLC35A1.
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Amber List (moderate evidence)
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.149 SLC35A1 Rebecca Foulger gene: SLC35A1 was added
gene: SLC35A1 was added to Inherited bleeding disorders. Sources: Literature
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 15576474; 30115659
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia
Review for gene: SLC35A1 was set to AMBER
Added comment: Added SLC35A1 to the 'Inherited bleeding disorders' panel with Amber rating as suggested by Helen Brittain, based on pattern of bleeding anomalies and macrothrombocytopaenia reported in PMID:15576474 (Martinez-Duncker, 2005. Note a 'leaky' polymorphism) and PMID:30115659 (Kauskot et al. 2018). More cases required for a diagnostic rating.
Sources: Literature
Inherited bleeding disorders v1.148 GBA Kate Downes reviewed gene: GBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders v1.148 PTPRJ Louise Daugherty Classified gene: PTPRJ as Amber List (moderate evidence)
Inherited bleeding disorders v1.148 PTPRJ Louise Daugherty Gene: ptprj has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.147 PTPRJ Louise Daugherty gene: PTPRJ was added
gene: PTPRJ was added to Inherited bleeding disorders. Sources: Literature
watchlist tags were added to gene: PTPRJ.
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopenia; spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Review for gene: PTPRJ was set to AMBER
Added comment: Marconi C et al. Dec 2018 (PMID: 30591527) through exome sequencing of two siblings with autosomal recessive thrombocytopenia, identified two biallelic loss-of-function variants in the gene PTPRJ. They also investigated the pathogenic role of PTPRJ deficiency in hematopoiesis in vivo, carried out using CRISPR/Cas9-mediated ablation of ptprja (the ortholog of human PTPRJ) in zebrafish, which induced a significantly decreased number of CD41+ thrombocytes in vivo. Megakaryocytes of the patients showed impaired maturation and profound defects in SDF1-driven migration and formation of proplatelets in vitro. Silencing of PTPRJ in a human megakaryocytic cell line reproduced the functional defects observed in patients' megakaryocytes. The disorder caused by PTPRJ mutations presented as a non-syndromic thrombocytopenia characterized by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Sources: Literature
Inherited bleeding disorders v1.146 Ellen McDonagh List of related panels changed from Inherited platelet disorders; Monogenic thrombophilia; Bleeding and platelet disorders; Inherited bleeding and or platelet disorders; Unprovoked Thrombosis before 40; Monogenic venous thrombosis to Inherited platelet disorders; Monogenic thrombophilia; Inherited bleeding and or platelet disorders; Unprovoked Thrombosis before 40; Monogenic venous thrombosis
Inherited bleeding disorders v1.145 GBA Louise Daugherty commented on gene: GBA: Update from NIHRRD-BR BRIDGE they will no longer be reporting on this gene on their platform. After discussion with Genomics England Clinical team, as the MOI is listed as biallelic so we would only prioritise variants that are homozygous or compound het. A parent might be found to be a carrier, when their child has the condition but that is to be expected and would be useful information. Gaucher is associated with haematological manifestations as part of the wider syndromic phenotype.
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Classified gene: SMAD4 as Green List (high evidence)
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Gene: smad4 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.143 SMAD4 Louise Daugherty gene: SMAD4 was added
gene: SMAD4 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder
Review for gene: SMAD4 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.142 ENG Louise Daugherty Classified gene: ENG as Green List (high evidence)
Inherited bleeding disorders v1.142 ENG Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.142 ENG Louise Daugherty Gene: eng has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.141 ENG Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green
Inherited bleeding disorders v1.141 ENG Louise Daugherty Publications for gene: ENG were set to 9245986
Inherited bleeding disorders v1.140 ENG Louise Daugherty Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1, 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Bleeding disorder
Inherited bleeding disorders v1.139 ENG Louise Daugherty gene: ENG was added
gene: ENG was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 9245986
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300
Review for gene: ENG was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Classified gene: ACVRL1 as Green List (high evidence)
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Gene: acvrl1 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.137 ACVRL1 Louise Daugherty Publications for gene: ACVRL1 were set to 29923633; 8640225; 30177223; 16155196; 14684682
Inherited bleeding disorders v1.136 ACVRL1 Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green. More than three unrelated cases in a range of ethnicities has been reported for HHT type 2
Inherited bleeding disorders v1.136 ACVRL1 Louise Daugherty Publications for gene: ACVRL1 were set to 8640225
Inherited bleeding disorders v1.135 ACVRL1 Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2, 600376 to Telangiectasia, hereditary hemorrhagic, type 2, 600376; Bleeding disorder
Inherited bleeding disorders v1.134 ACVRL1 Louise Daugherty Added comment: Comment on phenotypes: added the OMIM MIMid
Inherited bleeding disorders v1.134 ACVRL1 Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 to Telangiectasia, hereditary hemorrhagic, type 2, 600376
Inherited bleeding disorders v1.133 ACVRL1 Louise Daugherty gene: ACVRL1 was added
gene: ACVRL1 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 8640225
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2
Review for gene: ACVRL1 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.132 SRC Louise Daugherty Classified gene: SRC as Green List (high evidence)
Inherited bleeding disorders v1.132 SRC Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Two cases reported with functional evidence
Inherited bleeding disorders v1.132 SRC Louise Daugherty Gene: src has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.131 SRC Louise Daugherty edited their review of gene: SRC: Added comment: Gain of function reported; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited bleeding disorders v1.131 SRC Louise Daugherty edited their review of gene: SRC: Added comment: From NIHRRD-BR BRIDGE project, report of a second case with de novo variant plus functional data.; Changed rating: GREEN
Inherited bleeding disorders v1.131 SRC Louise Daugherty Phenotypes for gene: SRC were changed from Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937 to Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937; Platelet disorder
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Tag de novo tag was added to gene: CDC42.
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Classified gene: CDC42 as Green List (high evidence)
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence in the literature to support gene-disease association and relevance to this panel to rate this gene Green. At least 17 unrelated individuals with de novo variants have been reported in the literature
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.129 KLKB1 Louise Daugherty Phenotypes for gene: KLKB1 were changed from Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome; Coagulation disorder
Inherited bleeding disorders v1.128 GBA Louise Daugherty edited their review of gene: GBA: Changed phenotypes: Gaucher disease, Gaucher disease, perinatal lethal, 608013, Gaucher disease, type I, 230800, Gaucher disease, type II,230800, Gaucher disease, type III, 230800, Gaucher disease, type IIIC, 231005, Platelet disorder
Inherited bleeding disorders v1.128 CDC42 Louise Daugherty Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, 616737; Platelet disorder
Inherited bleeding disorders v1.127 CDC42 Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green
Inherited bleeding disorders v1.127 CDC42 Louise Daugherty Publications for gene: CDC42 were set to
Inherited bleeding disorders v1.126 CDC42 Louise Daugherty gene: CDC42 was added
gene: CDC42 was added to Inherited bleeding disorders. Sources: Expert list,Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: CDC42 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list, Literature
Inherited bleeding disorders v1.125 PIGA Louise Daugherty edited their review of gene: PIGA: Changed rating: AMBER
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Classified gene: PIGA as Red List (low evidence)
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Added comment: Comment on list classification: This is a disease modifier gene. Somatic variants cause Paroxysmal nocturnal haemoglobinuria.
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Gene: piga has been classified as Red List (Low Evidence).
Inherited bleeding disorders v1.124 PIGA Louise Daugherty edited their review of gene: PIGA: Changed rating: GREEN
Inherited bleeding disorders v1.124 PIGA Louise Daugherty Classified gene: PIGA as Amber List (moderate evidence)
Inherited bleeding disorders v1.124 PIGA Louise Daugherty Gene: piga has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.123 PIGA Louise Daugherty Publications for gene: PIGA were set to
Inherited bleeding disorders v1.122 PIGA Louise Daugherty Tag treatable tag was added to gene: PIGA.
Tag somatic tag was added to gene: PIGA.
Inherited bleeding disorders v1.122 PIGA Louise Daugherty gene: PIGA was added
gene: PIGA was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Paroxysmal nocturnal haemoglobinuria, somatic, 300818
Review for gene: PIGA was set to AMBER
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.121 GBA Louise Daugherty Classified gene: GBA as Green List (high evidence)
Inherited bleeding disorders v1.121 GBA Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.121 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.120 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 15813845
Phenotypes for gene: GBA were set to Gaucher disease; Gaucher disease, perinatal lethal, 608013; Gaucher disease, type I, 230800; Gaucher disease, type II,230800; Gaucher disease, type III, 230800; Gaucher disease, type IIIC, 231005
Review for gene: GBA was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Classified gene: KLKB1 as Green List (high evidence)
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Gene: klkb1 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.118 KLKB1 Louise Daugherty gene: KLKB1 was added
gene: KLKB1 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLKB1 were set to 17598838; 14652634; 11344577
Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome
Review for gene: KLKB1 was set to GREEN
gene: KLKB1 was marked as current diagnostic
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.117 ORAI1 Louise Daugherty edited their review of gene: ORAI1: Added comment: Green gene for PID/myopathy but not for BPD (ITP in single patient) reported in NIHRRD-BR BRIDGE project; Changed rating: AMBER
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Deleted their comment
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Classified gene: TPM4 as Amber List (moderate evidence)
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Amber. This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Gene: tpm4 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.115 TPM4 Louise Daugherty edited their review of gene: TPM4: Added comment: This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.; Changed rating: AMBER
Inherited bleeding disorders HRG Louise Daugherty edited their review of HRG
Inherited bleeding disorders HRG Louise Daugherty commented on HRG
Inherited bleeding disorders WAS Ellen McDonagh commented on WAS
Inherited bleeding disorders F9 Ellen McDonagh commented on F9
Inherited bleeding disorders F8 Ellen McDonagh commented on F8
Inherited bleeding disorders ORAI1 Sarah Leigh classified ORAI1 as Amber List (moderate evidence)
Inherited bleeding disorders LAT Rebecca Foulger classified LAT as amber
Inherited bleeding disorders LAT Rebecca Foulger added LAT to panel
Inherited bleeding disorders LAT Rebecca Foulger reviewed LAT
Inherited bleeding disorders C6orf25 Louise Daugherty commented on C6orf25
Inherited bleeding disorders AP3D1 Louise Daugherty commented on AP3D1
Inherited bleeding disorders TPM4 Louise Daugherty classified TPM4 as green
Inherited bleeding disorders TPM4 Louise Daugherty commented on TPM4
Inherited bleeding disorders RNU4ATAC Louise Daugherty commented on RNU4ATAC
Inherited bleeding disorders RNU4ATAC Louise Daugherty classified RNU4ATAC as green
Inherited bleeding disorders RNU4ATAC Louise Daugherty commented on RNU4ATAC
Inherited bleeding disorders PTPN11 Louise Daugherty classified PTPN11 as green
Inherited bleeding disorders PTPN11 Louise Daugherty commented on PTPN11
Inherited bleeding disorders KNG1 Louise Daugherty classified KNG1 as green
Inherited bleeding disorders KNG1 Louise Daugherty commented on KNG1
Inherited bleeding disorders KDSR Louise Daugherty classified KDSR as green
Inherited bleeding disorders KDSR Louise Daugherty commented on KDSR
Inherited bleeding disorders FYB Louise Daugherty classified FYB as green
Inherited bleeding disorders F12 Louise Daugherty classified F12 as green
Inherited bleeding disorders F12 Louise Daugherty commented on F12
Inherited bleeding disorders COL5A2 Louise Daugherty classified COL5A2 as green
Inherited bleeding disorders COL5A2 Louise Daugherty commented on COL5A2
Inherited bleeding disorders COL1A1 Louise Daugherty classified COL1A1 as green
Inherited bleeding disorders COL1A1 Louise Daugherty commented on COL1A1
Inherited bleeding disorders COL5A1 Louise Daugherty classified COL5A1 as green
Inherited bleeding disorders COL5A1 Louise Daugherty commented on COL5A1
Inherited bleeding disorders C6orf25 Louise Daugherty classified C6orf25 as green
Inherited bleeding disorders AP3D1 Louise Daugherty classified AP3D1 as green
Inherited bleeding disorders ARPC1B Louise Daugherty classified ARPC1B as green
Inherited bleeding disorders ARPC1B Louise Daugherty commented on ARPC1B
Inherited bleeding disorders ABCG8 Louise Daugherty classified ABCG8 as green
Inherited bleeding disorders ABCG8 Louise Daugherty commented on ABCG8
Inherited bleeding disorders ABCG5 Louise Daugherty classified ABCG5 as green
Inherited bleeding disorders ABCG5 Louise Daugherty commented on ABCG5
Inherited bleeding disorders TPM4 BRIDGE consortium reviewed TPM4
Inherited bleeding disorders SLFN14 BRIDGE consortium edited their review of SLFN14
Inherited bleeding disorders RNU4ATAC BRIDGE consortium reviewed RNU4ATAC
Inherited bleeding disorders PTPN11 BRIDGE consortium reviewed PTPN11
Inherited bleeding disorders KNG1 BRIDGE consortium reviewed KNG1
Inherited bleeding disorders KDSR BRIDGE consortium reviewed KDSR
Inherited bleeding disorders FYB BRIDGE consortium reviewed FYB
Inherited bleeding disorders F12 BRIDGE consortium reviewed F12
Inherited bleeding disorders COL5A2 BRIDGE consortium reviewed COL5A2
Inherited bleeding disorders COL5A1 BRIDGE consortium reviewed COL5A1
Inherited bleeding disorders COL1A1 BRIDGE consortium reviewed COL1A1
Inherited bleeding disorders C6orf25 BRIDGE consortium reviewed C6orf25
Inherited bleeding disorders ARPC1B BRIDGE consortium reviewed ARPC1B
Inherited bleeding disorders AP3D1 BRIDGE consortium reviewed AP3D1
Inherited bleeding disorders ADAMTS13 BRIDGE consortium reviewed ADAMTS13
Inherited bleeding disorders ABCG8 BRIDGE consortium reviewed ABCG8
Inherited bleeding disorders ABCG5 BRIDGE consortium reviewed ABCG5
Inherited bleeding disorders ADAMTS13 Louise Daugherty classified ADAMTS13 as green
Inherited bleeding disorders ADAMTS13 Louise Daugherty commented on ADAMTS13
Inherited bleeding disorders FYB Louise Daugherty classified FYB as amber
Inherited bleeding disorders FYB Louise Daugherty commented on FYB
Inherited bleeding disorders FYB Louise Daugherty added FYB to panel
Inherited bleeding disorders FYB Louise Daugherty reviewed FYB
Inherited bleeding disorders F8 Sarah Leigh reviewed F8
Inherited bleeding disorders ADAMTS13 Neil Morgan added ADAMTS13 to panel
Inherited bleeding disorders ADAMTS13 Neil Morgan reviewed ADAMTS13
Inherited bleeding disorders C6orf25 Louise Daugherty commented on C6orf25
Inherited bleeding disorders AP3D1 Louise Daugherty added AP3D1 to panel
Inherited bleeding disorders AP3D1 Louise Daugherty reviewed AP3D1
Inherited bleeding disorders SRC Louise Daugherty commented on SRC
Inherited bleeding disorders Louise Daugherty promoted panel to version 1
Inherited bleeding disorders VWF Louise Daugherty reviewed VWF
Inherited bleeding disorders VPS33B Louise Daugherty reviewed VPS33B
Inherited bleeding disorders VKORC1 Louise Daugherty reviewed VKORC1
Inherited bleeding disorders VIPAS39 Louise Daugherty reviewed VIPAS39
Inherited bleeding disorders TUBB1 Louise Daugherty reviewed TUBB1
Inherited bleeding disorders THPO Louise Daugherty reviewed THPO
Inherited bleeding disorders THBD Louise Daugherty reviewed THBD
Inherited bleeding disorders TBXAS1 Louise Daugherty reviewed TBXAS1
Inherited bleeding disorders TBXA2R Louise Daugherty reviewed TBXA2R
Inherited bleeding disorders STXBP2 Louise Daugherty reviewed STXBP2
Inherited bleeding disorders STIM1 Louise Daugherty reviewed STIM1
Inherited bleeding disorders SLFN14 Louise Daugherty reviewed SLFN14
Inherited bleeding disorders SLC45A2 Louise Daugherty reviewed SLC45A2
Inherited bleeding disorders SERPINF2 Louise Daugherty reviewed SERPINF2
Inherited bleeding disorders SERPINE1 Louise Daugherty reviewed SERPINE1
Inherited bleeding disorders SERPIND1 Louise Daugherty reviewed SERPIND1
Inherited bleeding disorders SERPINC1 Louise Daugherty reviewed SERPINC1
Inherited bleeding disorders RUNX1 Louise Daugherty reviewed RUNX1
Inherited bleeding disorders RBM8A Louise Daugherty reviewed RBM8A
Inherited bleeding disorders RASGRP2 Louise Daugherty reviewed RASGRP2
Inherited bleeding disorders PROS1 Louise Daugherty reviewed PROS1
Inherited bleeding disorders PROC Louise Daugherty reviewed PROC
Inherited bleeding disorders PLG Louise Daugherty reviewed PLG
Inherited bleeding disorders PLAU Louise Daugherty reviewed PLAU
Inherited bleeding disorders PLAT Louise Daugherty reviewed PLAT
Inherited bleeding disorders PLA2G4A Louise Daugherty reviewed PLA2G4A
Inherited bleeding disorders P2RY12 Louise Daugherty reviewed P2RY12
Inherited bleeding disorders ORAI1 Louise Daugherty reviewed ORAI1
Inherited bleeding disorders NBEAL2 Louise Daugherty reviewed NBEAL2
Inherited bleeding disorders NBEA Louise Daugherty reviewed NBEA
Inherited bleeding disorders MYH9 Louise Daugherty reviewed MYH9
Inherited bleeding disorders MPL Louise Daugherty reviewed MPL
Inherited bleeding disorders MECOM Louise Daugherty reviewed MECOM
Inherited bleeding disorders MCFD2 Louise Daugherty reviewed MCFD2
Inherited bleeding disorders LYST Louise Daugherty reviewed LYST
Inherited bleeding disorders LMAN1 Louise Daugherty reviewed LMAN1
Inherited bleeding disorders ITGB3 Louise Daugherty reviewed ITGB3
Inherited bleeding disorders ITGA2B Louise Daugherty reviewed ITGA2B
Inherited bleeding disorders HRG Louise Daugherty reviewed HRG
Inherited bleeding disorders HPS6 Louise Daugherty reviewed HPS6
Inherited bleeding disorders HPS5 Louise Daugherty reviewed HPS5
Inherited bleeding disorders HPS4 Louise Daugherty reviewed HPS4
Inherited bleeding disorders HPS3 Louise Daugherty reviewed HPS3
Inherited bleeding disorders HPS1 Louise Daugherty reviewed HPS1
Inherited bleeding disorders HOXA11 Louise Daugherty reviewed HOXA11
Inherited bleeding disorders GP9 Louise Daugherty reviewed GP9
Inherited bleeding disorders GP6 Louise Daugherty reviewed GP6
Inherited bleeding disorders GP1BB Louise Daugherty reviewed GP1BB
Inherited bleeding disorders GP1BA Louise Daugherty reviewed GP1BA
Inherited bleeding disorders GNE Louise Daugherty reviewed GNE
Inherited bleeding disorders GGCX Louise Daugherty reviewed GGCX
Inherited bleeding disorders GFI1B Louise Daugherty reviewed GFI1B
Inherited bleeding disorders GATA1 Louise Daugherty reviewed GATA1
Inherited bleeding disorders FLNA Louise Daugherty reviewed FLNA
Inherited bleeding disorders FLI1 Louise Daugherty reviewed FLI1
Inherited bleeding disorders FGG Louise Daugherty reviewed FGG
Inherited bleeding disorders FGB Louise Daugherty reviewed FGB
Inherited bleeding disorders FGA Louise Daugherty reviewed FGA
Inherited bleeding disorders FERMT3 Louise Daugherty reviewed FERMT3
Inherited bleeding disorders F9 Louise Daugherty reviewed F9
Inherited bleeding disorders F8 Louise Daugherty reviewed F8
Inherited bleeding disorders F7 Louise Daugherty reviewed F7
Inherited bleeding disorders F5 Louise Daugherty reviewed F5
Inherited bleeding disorders F2 Louise Daugherty reviewed F2
Inherited bleeding disorders F13B Louise Daugherty reviewed F13B
Inherited bleeding disorders F13A1 Louise Daugherty reviewed F13A1
Inherited bleeding disorders F11 Louise Daugherty reviewed F11
Inherited bleeding disorders F10 Louise Daugherty reviewed F10
Inherited bleeding disorders ETV6 Louise Daugherty reviewed ETV6
Inherited bleeding disorders DTNBP1 Louise Daugherty reviewed DTNBP1
Inherited bleeding disorders DIAPH1 Louise Daugherty reviewed DIAPH1
Inherited bleeding disorders CYCS Louise Daugherty reviewed CYCS
Inherited bleeding disorders CHST14 Louise Daugherty reviewed CHST14
Inherited bleeding disorders BLOC1S6 Louise Daugherty reviewed BLOC1S6
Inherited bleeding disorders BLOC1S3 Louise Daugherty reviewed BLOC1S3
Inherited bleeding disorders AP3B1 Louise Daugherty reviewed AP3B1
Inherited bleeding disorders ANO6 Louise Daugherty reviewed ANO6
Inherited bleeding disorders ANKRD26 Louise Daugherty reviewed ANKRD26
Inherited bleeding disorders ACTN1 Louise Daugherty reviewed ACTN1
Inherited bleeding disorders ACTN1 Ellen McDonagh classified ACTN1 as green
Inherited bleeding disorders WAS BRIDGE consortium reviewed WAS
Inherited bleeding disorders VWF BRIDGE consortium reviewed VWF
Inherited bleeding disorders VPS33B BRIDGE consortium reviewed VPS33B
Inherited bleeding disorders VKORC1 BRIDGE consortium reviewed VKORC1
Inherited bleeding disorders VIPAS39 BRIDGE consortium reviewed VIPAS39
Inherited bleeding disorders TUBB1 BRIDGE consortium reviewed TUBB1
Inherited bleeding disorders THPO BRIDGE consortium reviewed THPO
Inherited bleeding disorders THBD BRIDGE consortium reviewed THBD
Inherited bleeding disorders TBXAS1 BRIDGE consortium reviewed TBXAS1
Inherited bleeding disorders TBXA2R BRIDGE consortium reviewed TBXA2R
Inherited bleeding disorders STXBP2 BRIDGE consortium reviewed STXBP2
Inherited bleeding disorders STIM1 BRIDGE consortium reviewed STIM1
Inherited bleeding disorders SLFN14 BRIDGE consortium reviewed SLFN14
Inherited bleeding disorders SLC45A2 BRIDGE consortium reviewed SLC45A2
Inherited bleeding disorders SERPINF2 BRIDGE consortium reviewed SERPINF2
Inherited bleeding disorders SERPINE1 BRIDGE consortium reviewed SERPINE1
Inherited bleeding disorders SERPIND1 BRIDGE consortium reviewed SERPIND1
Inherited bleeding disorders SERPINC1 BRIDGE consortium reviewed SERPINC1
Inherited bleeding disorders RUNX1 BRIDGE consortium reviewed RUNX1
Inherited bleeding disorders RBM8A BRIDGE consortium reviewed RBM8A
Inherited bleeding disorders RASGRP2 BRIDGE consortium reviewed RASGRP2
Inherited bleeding disorders PROS1 BRIDGE consortium reviewed PROS1
Inherited bleeding disorders PROC BRIDGE consortium reviewed PROC
Inherited bleeding disorders PLG BRIDGE consortium reviewed PLG
Inherited bleeding disorders PLAU BRIDGE consortium reviewed PLAU
Inherited bleeding disorders PLAT BRIDGE consortium reviewed PLAT
Inherited bleeding disorders PLA2G4A BRIDGE consortium reviewed PLA2G4A
Inherited bleeding disorders P2RY12 BRIDGE consortium reviewed P2RY12
Inherited bleeding disorders ORAI1 BRIDGE consortium reviewed ORAI1
Inherited bleeding disorders NBEAL2 BRIDGE consortium reviewed NBEAL2
Inherited bleeding disorders NBEA BRIDGE consortium reviewed NBEA
Inherited bleeding disorders MYH9 BRIDGE consortium reviewed MYH9
Inherited bleeding disorders MPL BRIDGE consortium reviewed MPL
Inherited bleeding disorders MECOM BRIDGE consortium reviewed MECOM
Inherited bleeding disorders MCFD2 BRIDGE consortium reviewed MCFD2
Inherited bleeding disorders LYST BRIDGE consortium reviewed LYST
Inherited bleeding disorders LMAN1 BRIDGE consortium reviewed LMAN1
Inherited bleeding disorders ITGB3 BRIDGE consortium reviewed ITGB3
Inherited bleeding disorders ITGA2B BRIDGE consortium reviewed ITGA2B
Inherited bleeding disorders HRG BRIDGE consortium reviewed HRG
Inherited bleeding disorders HPS6 BRIDGE consortium reviewed HPS6
Inherited bleeding disorders HPS5 BRIDGE consortium reviewed HPS5
Inherited bleeding disorders HPS4 BRIDGE consortium reviewed HPS4
Inherited bleeding disorders HPS3 BRIDGE consortium reviewed HPS3
Inherited bleeding disorders HPS1 BRIDGE consortium reviewed HPS1
Inherited bleeding disorders HOXA11 BRIDGE consortium reviewed HOXA11
Inherited bleeding disorders GP9 BRIDGE consortium reviewed GP9
Inherited bleeding disorders GP6 BRIDGE consortium reviewed GP6
Inherited bleeding disorders GP1BB BRIDGE consortium reviewed GP1BB
Inherited bleeding disorders GP1BA BRIDGE consortium reviewed GP1BA
Inherited bleeding disorders GNE BRIDGE consortium reviewed GNE
Inherited bleeding disorders GGCX BRIDGE consortium reviewed GGCX
Inherited bleeding disorders GFI1B BRIDGE consortium reviewed GFI1B
Inherited bleeding disorders GATA1 BRIDGE consortium reviewed GATA1
Inherited bleeding disorders FLNA BRIDGE consortium reviewed FLNA
Inherited bleeding disorders FLI1 BRIDGE consortium reviewed FLI1
Inherited bleeding disorders FGG BRIDGE consortium reviewed FGG
Inherited bleeding disorders FGB BRIDGE consortium reviewed FGB
Inherited bleeding disorders FGA BRIDGE consortium reviewed FGA
Inherited bleeding disorders FERMT3 BRIDGE consortium reviewed FERMT3
Inherited bleeding disorders F9 BRIDGE consortium reviewed F9
Inherited bleeding disorders F8 BRIDGE consortium reviewed F8
Inherited bleeding disorders F7 BRIDGE consortium reviewed F7
Inherited bleeding disorders F5 BRIDGE consortium reviewed F5
Inherited bleeding disorders F2 BRIDGE consortium reviewed F2
Inherited bleeding disorders F13B BRIDGE consortium reviewed F13B
Inherited bleeding disorders F13A1 BRIDGE consortium reviewed F13A1
Inherited bleeding disorders F11 BRIDGE consortium reviewed F11
Inherited bleeding disorders F10 BRIDGE consortium reviewed F10
Inherited bleeding disorders ETV6 BRIDGE consortium reviewed ETV6
Inherited bleeding disorders DTNBP1 BRIDGE consortium reviewed DTNBP1
Inherited bleeding disorders DIAPH1 BRIDGE consortium reviewed DIAPH1
Inherited bleeding disorders CYCS BRIDGE consortium reviewed CYCS
Inherited bleeding disorders CHST14 BRIDGE consortium reviewed CHST14
Inherited bleeding disorders BLOC1S6 BRIDGE consortium reviewed BLOC1S6
Inherited bleeding disorders BLOC1S3 BRIDGE consortium reviewed BLOC1S3
Inherited bleeding disorders AP3B1 BRIDGE consortium reviewed AP3B1
Inherited bleeding disorders ANO6 BRIDGE consortium reviewed ANO6
Inherited bleeding disorders ANKRD26 BRIDGE consortium reviewed ANKRD26
Inherited bleeding disorders ACTN1 BRIDGE consortium reviewed ACTN1
Inherited bleeding disorders GP1BB Ellen McDonagh added GP1BB to panel
Inherited bleeding disorders GP1BB Ellen McDonagh reviewed GP1BB
Inherited bleeding disorders GP1BA Ellen McDonagh added GP1BA to panel
Inherited bleeding disorders GP1BA Ellen McDonagh reviewed GP1BA
Inherited bleeding disorders GP9 Ellen McDonagh added GP9 to panel
Inherited bleeding disorders GP9 Ellen McDonagh reviewed GP9