PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
913 actions
Bleeding and Platelet Disorders v1.55 FGA Bryony Thompson Mode of inheritance for gene: FGA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.54 FGB Bryony Thompson Publications for gene: FGB were set to 12393540; 16195396; 24560896
Bleeding and Platelet Disorders v1.54 FGB Bryony Thompson Publications for gene: FGB were set to 12393540; 16195396
Bleeding and Platelet Disorders v1.53 FGB Bryony Thompson Mode of inheritance for gene: FGB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.52 FGB Bryony Thompson reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24560896; Phenotypes: Congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.52 FGA Bryony Thompson edited their review of gene: FGA: Changed rating: GREEN
Bleeding and Platelet Disorders v1.52 FGA Bryony Thompson reviewed gene: FGA: Rating: ; Mode of pathogenicity: None; Publications: 10602365, 11460510; Phenotypes: Congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.52 F9 Bryony Thompson changed review comment from: Classified as LIMITED by the Hemostasis Thrombosis GCEP in 2023 with 2 families reported with missense variants, however 3 additional families/cases have been reported with increased factor 9 activity and large duplications involving F9. Gain of function is the mechanism of disease for the thrombophilia.; to: Classified as LIMITED by the Hemostasis Thrombosis GCEP in 2023 with 2 families reported with missense variants; however, 3 additional families/cases have been reported with increased factor 9 activity and large duplications involving F9. Gain of function is the mechanism of disease for thrombophilia.
Bleeding and Platelet Disorders v1.52 F9 Bryony Thompson edited their review of gene: F9: Changed mode of pathogenicity: Other
Bleeding and Platelet Disorders v1.52 F9 Bryony Thompson reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 32079698, 38886735, 38358900, 37414287, 33656538; Phenotypes: thrombophilia, X-linked, due to factor 9 defect MONDO:0010432; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v1.52 EPHB2 Sangavi Sivagnanasundram reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30213874; Phenotypes: bleeding disorder, platelet-type, 22 MONDO:0032765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.52 PROS1 Zornitza Stark Marked gene: PROS1 as ready
Bleeding and Platelet Disorders v1.52 PROS1 Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.52 PROS1 Zornitza Stark Classified gene: PROS1 as Green List (high evidence)
Bleeding and Platelet Disorders v1.52 PROS1 Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.51 SERPINC1 Zornitza Stark Marked gene: SERPINC1 as ready
Bleeding and Platelet Disorders v1.51 SERPINC1 Zornitza Stark Gene: serpinc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.51 SERPINC1 Zornitza Stark edited their review of gene: SERPINC1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.51 SERPINC1 Zornitza Stark Classified gene: SERPINC1 as Green List (high evidence)
Bleeding and Platelet Disorders v1.51 SERPINC1 Zornitza Stark Gene: serpinc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.50 SERPINC1 Zornitza Stark reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 7 due to antithrombin III deficiency #613118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.50 SERPIND1 Zornitza Stark Marked gene: SERPIND1 as ready
Bleeding and Platelet Disorders v1.50 SERPIND1 Zornitza Stark Gene: serpind1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.50 SERPIND1 Zornitza Stark Phenotypes for gene: SERPIND1 were changed from HEPARIN COFACTOR II DEFICIENCY #612356 to heparin cofactor 2 deficiency, MONDO:0012876; Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356
Bleeding and Platelet Disorders v1.49 SERPIND1 Zornitza Stark Publications for gene: SERPIND1 were set to PMID: 12421148; PMID: 35592395; PMID: 2647747; PMID: 11204559; PMID: 10494755
Bleeding and Platelet Disorders v1.48 SERPIND1 Zornitza Stark Classified gene: SERPIND1 as Green List (high evidence)
Bleeding and Platelet Disorders v1.48 SERPIND1 Zornitza Stark Gene: serpind1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.47 SERPIND1 Zornitza Stark reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8902986, 15337701, 31064749, 11204559, 8562924, 29296762, 2863444, 2647747, 17549254, 11805133; Phenotypes: heparin cofactor 2 deficiency, MONDO:0012876, Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.47 SERPIND1 Jane Lin gene: SERPIND1 was added
gene: SERPIND1 was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SERPIND1 were set to PMID: 12421148; PMID: 35592395; PMID: 2647747; PMID: 11204559; PMID: 10494755
Phenotypes for gene: SERPIND1 were set to HEPARIN COFACTOR II DEFICIENCY #612356
Review for gene: SERPIND1 was set to AMBER
gene: SERPIND1 was marked as current diagnostic
Added comment: Also known as HCF2. There is evidence of protein to phenotype links but not many recent papers linking specific genetic variants to phenotype. Expect more given the first link to inherited thrombosis was published in 1985 (PMID: 2863444). There are two papers that used PCR to determine mutation in an affected individual (PMID: 2647747) published in 1989 and a paper in 2001 (PMID: 11204559). There is a paper reporting homozygous HCII but could not access paper (abstract only) (PMID: 10494755). This 2002 review (PMID: 12421148) lists 5 publications with 5 different molecular mutations linked to Heparin Cofactor II Deficiency. This review also notes that most of the case reports concluded that "inherited HCII deficiency is not a strong risk factor for thrombosis or that it contributes to thrombotic risk only when combined with other deficiencies." A more recent review (PMID: 35592395) has similar view and literature searches don't reveal recent papers with reports of variants linked to thrombosis.
Sources: Expert list
Bleeding and Platelet Disorders v1.47 SERPINC1 Jane Lin gene: SERPINC1 was added
gene: SERPINC1 was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: SERPINC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SERPINC1 were set to PMID: 14347873; PMID: 36624481; PMID: 28300866
Phenotypes for gene: SERPINC1 were set to Thrombophilia 7 due to antithrombin III deficiency #613118
Review for gene: SERPINC1 was set to GREEN
gene: SERPINC1 was marked as current diagnostic
Added comment: Well established gene-phenotype relationship. Mostly autosomal dominant inheritance (autosomal recessive inheritance is rare but has been published). Have listed an early publication (1965) establishing this link and two more recent papers.
Sources: Expert list
Bleeding and Platelet Disorders v1.47 PROS1 Jane Lin gene: PROS1 was added
gene: PROS1 was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: PROS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PROS1 were set to PMID: 2521801; PMID: 7545463; PMID: 2231208; PMID: 10063989
Phenotypes for gene: PROS1 were set to Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514
Review for gene: PROS1 was set to GREEN
gene: PROS1 was marked as current diagnostic
Added comment: Strong gene-phenotype link. Many publications for both both autosomal dominant and autosomal recessive inheritance of PROS1 variants and thrombosis phenotype.
Sources: Expert list
Bleeding and Platelet Disorders v1.47 PIGA Jane Lin changed review comment from: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes.
Sources: Expert list; to: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes.
Sources: Expert list

Note: a few publications on constitutive PIGA mutations don't describe thrombosis as part of the phenotype. Note that homozygous/hemizygous mutations are rare and quite lethal.

PMID: 22305531
PMID: 34875027
Bleeding and Platelet Disorders v1.47 PIGA Zornitza Stark Marked gene: PIGA as ready
Bleeding and Platelet Disorders v1.47 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.47 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818 to Paroxysmal nocturnal hemoglobinuria, somatic, MIM# 300818
Bleeding and Platelet Disorders v1.46 PIGA Zornitza Stark Classified gene: PIGA as Red List (low evidence)
Bleeding and Platelet Disorders v1.46 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.45 PIGA Zornitza Stark Tag somatic tag was added to gene: PIGA.
Bleeding and Platelet Disorders v1.45 PROC Zornitza Stark Marked gene: PROC as ready
Bleeding and Platelet Disorders v1.45 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.45 PROC Zornitza Stark Phenotypes for gene: PROC were changed from THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304 to Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304
Bleeding and Platelet Disorders v1.44 PROC Zornitza Stark Classified gene: PROC as Green List (high evidence)
Bleeding and Platelet Disorders v1.44 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.43 PROC Jane Lin gene: PROC was added
gene: PROC was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROC were set to PMID: 2437584; PMID: 7670104; PMID: 10942114; PMID: 28265398
Phenotypes for gene: PROC were set to THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304
Review for gene: PROC was set to GREEN
gene: PROC was marked as current diagnostic
Added comment: Has well established gene-disease association with thrombosis. Biallelic inheritance is rare and there is evidence it is more severe but data is complicated by findings that some patients also have changes in Factor V Leiden so have not selected the option where biallelic inheritance is more severe.
Sources: Expert list
Bleeding and Platelet Disorders v1.43 PIGA Jane Lin gene: PIGA was added
gene: PIGA was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: PIGA was set to Unknown
Publications for gene: PIGA were set to PMID: 9019395; PMID: 28516949
Phenotypes for gene: PIGA were set to PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818
Review for gene: PIGA was set to RED
gene: PIGA was marked as current diagnostic
Added comment: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes.
Sources: Expert list
Bleeding and Platelet Disorders v1.43 CBS Zornitza Stark Publications for gene: CBS were set to
Bleeding and Platelet Disorders v1.42 CBS Zornitza Stark Classified gene: CBS as Green List (high evidence)
Bleeding and Platelet Disorders v1.42 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.41 CBS Zornitza Stark edited their review of gene: CBS: Changed rating: GREEN
Bleeding and Platelet Disorders v1.41 PLG Zornitza Stark Publications for gene: PLG were set to
Bleeding and Platelet Disorders v1.40 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.39 PLG Zornitza Stark Classified gene: PLG as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.39 PLG Zornitza Stark Gene: plg has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.38 PLG Zornitza Stark reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 35244080, 27976734; Phenotypes: Dysplasminogenemia 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.38 PLG Jane Lin gene: PLG was added
gene: PLG was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I; Dysplasminogenemia; MIM#217090
gene: PLG was marked as current diagnostic
Added comment: Included in Genomics England PanelApp "Thrombophilia with a likely monogenic cause" panel. Adding to this panel as this gene has a gene-disease association with thrombophilia.
Sources: Expert Review
Bleeding and Platelet Disorders v1.38 CBS Jane Lin reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombosis, HOMOCYSTINURIA, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.38 CFI Zornitza Stark Marked gene: CFI as ready
Bleeding and Platelet Disorders v1.38 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.38 CFI Zornitza Stark Classified gene: CFI as Green List (high evidence)
Bleeding and Platelet Disorders v1.38 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.37 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFI were set to {Haemolytic uremic syndrome, atypical, susceptibility to, 3}, MIM# 612923
Review for gene: CFI was set to GREEN
Added comment: Thrombotic microangiopathy is part of the phenotype. Note this is a susceptibility locus.
Sources: Expert Review
Bleeding and Platelet Disorders v1.36 CFB Zornitza Stark Marked gene: CFB as ready
Bleeding and Platelet Disorders v1.36 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.36 CFB Zornitza Stark Classified gene: CFB as Green List (high evidence)
Bleeding and Platelet Disorders v1.36 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.35 CFB Zornitza Stark gene: CFB was added
gene: CFB was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFB were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924
Review for gene: CFB was set to GREEN
Added comment: Thrombotic microangiopathy is part of the phenotype. Note this is a susceptibility locus.
Sources: Expert Review
Bleeding and Platelet Disorders v1.34 C3 Zornitza Stark Marked gene: C3 as ready
Bleeding and Platelet Disorders v1.34 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.34 C3 Zornitza Stark Classified gene: C3 as Green List (high evidence)
Bleeding and Platelet Disorders v1.34 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.33 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: C3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: C3 were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Review for gene: C3 was set to GREEN
Added comment: Thrombotic microangiopathy is part of the clinical presentation. Note this is a susceptibility locus.
Sources: Expert Review
Bleeding and Platelet Disorders v1.31 GALE Zornitza Stark Marked gene: GALE as ready
Bleeding and Platelet Disorders v1.31 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.31 GALE Zornitza Stark Classified gene: GALE as Green List (high evidence)
Bleeding and Platelet Disorders v1.31 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.30 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 30247636; 34159722; 36395340
Phenotypes for gene: GALE were set to Thrombocytopenia 12, syndromic, MIM#620776
Review for gene: GALE was set to GREEN
Added comment: 10 individuals from 5 families reported with bi-allelic variants in this gene and congenital thrombocytopenia resulting in increased bleeding. Platelets were enlarged (macrothrombocytopenia) and/or gray and had functional defects. Some individuals have infection-induced leukopenia or anaemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development.
Sources: Expert list
Bleeding and Platelet Disorders v1.29 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Thrombocytopaenia; Myopathy to Thrombocytopenia 12 with or without myopathy, MIM#620757
Bleeding and Platelet Disorders v1.28 GNE Zornitza Stark edited their review of gene: GNE: Changed phenotypes: Thrombocytopenia 12 with or without myopathy, MIM#620757
Bleeding and Platelet Disorders v1.28 APOLD1 Seb Lunke Marked gene: APOLD1 as ready
Bleeding and Platelet Disorders v1.28 APOLD1 Seb Lunke Gene: apold1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.28 APOLD1 Seb Lunke Classified gene: APOLD1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.28 APOLD1 Seb Lunke Gene: apold1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.27 APOLD1 Lucy Spencer changed review comment from: PMID: 35638551
1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant.

This gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein

Interestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.

Immunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization.
Sources: Literature; to: PMID: 35638551
1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant.

This gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein

Interestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.

Immunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization.

SiRNA silencing of APOLD1 in HBDEC cells resulted in altered cell shape and size, and were associated with endothelial cell junction dismantling. These cells were also almost devoid of VWF.
Sources: Literature
Bleeding and Platelet Disorders v1.27 APOLD1 Lucy Spencer gene: APOLD1 was added
gene: APOLD1 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: APOLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOLD1 were set to 35638551
Phenotypes for gene: APOLD1 were set to Bleeding disorder, vascular-type (MIM#620715)
Review for gene: APOLD1 was set to AMBER
Added comment: PMID: 35638551
1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant.

This gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein

Interestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.

Immunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization.
Sources: Literature
Bleeding and Platelet Disorders v1.27 FYB1 Zornitza Stark Classified gene: FYB1 as Green List (high evidence)
Bleeding and Platelet Disorders v1.27 FYB1 Zornitza Stark Gene: fyb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.26 FYB1 Zornitza Stark edited their review of gene: FYB1: Added comment: Two further cases through clinical testing (Prevention Genetics) with homozygous LoF variant.; Changed rating: GREEN; Changed phenotypes: Thrombocytopenia 3, MIM# 273900
Bleeding and Platelet Disorders v1.26 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 25, MIM# 620486
Bleeding and Platelet Disorders v1.25 TPM4 Zornitza Stark edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486
Bleeding and Platelet Disorders v1.25 PTPRJ Zornitza Stark Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484
Bleeding and Platelet Disorders v1.24 PTPRJ Zornitza Stark edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484
Bleeding and Platelet Disorders v1.24 THPO Zornitza Stark Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478; Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Bleeding and Platelet Disorders v1.23 THPO Zornitza Stark Publications for gene: THPO were set to 9425899; 10583217; 32150607; 28466964
Bleeding and Platelet Disorders v1.22 THPO Zornitza Stark edited their review of gene: THPO: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.22 THPO Zornitza Stark Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.21 THPO Zornitza Stark edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.21 THPO Zornitza Stark Publications for gene: THPO were set to 9425899; 10583217
Bleeding and Platelet Disorders v1.20 THPO Zornitza Stark Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478
Bleeding and Platelet Disorders v1.19 THPO Zornitza Stark edited their review of gene: THPO: Added comment: Thrombocytopenia: 5 unrelated families reported.; Changed publications: 9425899, 10583217, 32150607, 28466964; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478
Bleeding and Platelet Disorders v1.19 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Syndromic thrombocytopaenia to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Bleeding and Platelet Disorders v1.18 ACTB Zornitza Stark edited their review of gene: ACTB: Changed phenotypes: Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Bleeding and Platelet Disorders v1.18 TLN1 Zornitza Stark Marked gene: TLN1 as ready
Bleeding and Platelet Disorders v1.18 TLN1 Zornitza Stark Gene: tln1 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.18 TLN1 Zornitza Stark Phenotypes for gene: TLN1 were changed from thrombocytopenia, MONDO:0002049 to thrombocytopenia, MONDO:0002049, TLN1-related
Bleeding and Platelet Disorders v1.17 TLN1 Zornitza Stark Classified gene: TLN1 as Red List (low evidence)
Bleeding and Platelet Disorders v1.17 TLN1 Zornitza Stark Gene: tln1 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.16 TLN1 Achchuthan Shanmugasundram gene: TLN1 was added
gene: TLN1 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TLN1 were set to 35861643
Phenotypes for gene: TLN1 were set to thrombocytopenia, MONDO:0002049
Review for gene: TLN1 was set to RED
Added comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient generally had a platelet count of <20 000/mcL, but without significant bleeding. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents.
Sources: Literature
Bleeding and Platelet Disorders v1.16 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Bleeding and Platelet Disorders v1.16 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Bleeding and Platelet Disorders v1.16 ARPC1B Zornitza Stark changed review comment from: At least 9 unrelated families reported.
Sources: Expert list; to: At least 9 unrelated families reported. Treatable: BMT.
Sources: Expert list
Bleeding and Platelet Disorders v1.16 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Bleeding and Platelet Disorders v1.16 Zornitza Stark HPO terms changed from to Abnormal bleeding, HP:0001892;Abnormal thrombosis, HP:0001977
List of related panels changed from to Abnormal bleeding; HP:0001892;Abnormal thrombosis; HP:0001977
Bleeding and Platelet Disorders v1.15 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Bleeding and Platelet Disorders v1.15 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Bleeding and Platelet Disorders v1.15 KIF15 Alison Yeung Marked gene: KIF15 as ready
Bleeding and Platelet Disorders v1.15 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.15 KIF15 Alison Yeung Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981
Bleeding and Platelet Disorders v1.14 KIF15 Alison Yeung Classified gene: KIF15 as Red List (low evidence)
Bleeding and Platelet Disorders v1.14 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.13 KIF15 Krithika Murali gene: KIF15 was added
gene: KIF15 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF15 were set to 28150392
Phenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981
Review for gene: KIF15 was set to AMBER
Added comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly <3 SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.

No other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1).
Sources: Literature
Bleeding and Platelet Disorders v1.13 HRG Zornitza Stark Marked gene: HRG as ready
Bleeding and Platelet Disorders v1.13 HRG Zornitza Stark Gene: hrg has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.13 HRG Zornitza Stark Classified gene: HRG as Green List (high evidence)
Bleeding and Platelet Disorders v1.13 HRG Zornitza Stark Gene: hrg has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.12 HRG Zornitza Stark gene: HRG was added
gene: HRG was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRG were set to 8236132; 11057869; 11057869; 29108964
Phenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116
Review for gene: HRG was set to GREEN
Added comment: Established gene-disease association.
Sources: Expert Review
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Classified gene: TUBA8 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.11 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.10 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA8 were set to 34704371
Phenotypes for gene: TUBA8 were set to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Review for gene: TUBA8 was set to AMBER
Added comment: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic, one had menorrhagia.
Sources: Expert list
Bleeding and Platelet Disorders v1.9 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 32245340; 22461475
Bleeding and Platelet Disorders v1.8 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Bleeding and Platelet Disorders v1.8 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Marked gene: KLKB1 as ready
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Gene: klkb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Classified gene: KLKB1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Gene: klkb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.5 KLKB1 Zornitza Stark gene: KLKB1 was added
gene: KLKB1 was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLKB1 were set to 15461630; 33073460
Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, MIM# 612423
Review for gene: KLKB1 was set to AMBER
Added comment: Prolonged aPTT, but asymptomatic, hence some variants have a high gnomad frequency.
Sources: Expert Review
Bleeding and Platelet Disorders v1.4 F8 Zornitza Stark Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700; MONDO:0010602 to Haemophilia A, MIM# 306700; MONDO:0010602; Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071
Bleeding and Platelet Disorders v1.3 ETV6 Zornitza Stark Phenotypes for gene: ETV6 were changed from Thrombocytopenia 5, MIM# 616216 to Thrombocytopaenia 5, MIM# 616216
Bleeding and Platelet Disorders v1.2 ETV6 Zornitza Stark edited their review of gene: ETV6: Changed phenotypes: Thrombocytopaenia 5, MIM# 616216
Bleeding and Platelet Disorders v1.2 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2, MIM# 188000 to Thrombocytopaenia 2, MIM# 188000
Bleeding and Platelet Disorders v1.1 ANKRD26 Zornitza Stark edited their review of gene: ANKRD26: Changed phenotypes: Thrombocytopaenia 2, MIM# 188000
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Marked gene: SLC37A4 as ready
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Classified gene: SLC37A4 as Green List (high evidence)
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.0 SLC37A4 Paul De Fazio gene: SLC37A4 was added
gene: SLC37A4 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC37A4 were set to 33964207
Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency
Review for gene: SLC37A4 was set to GREEN
gene: SLC37A4 was marked as current diagnostic
Added comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.

Note that although most/all patients had abnormal clotting factors, only one was noted to have a history of bruising/bleeding.
Sources: Literature
Bleeding and Platelet Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Marked gene: SERPINF2 as ready
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Gene: serpinf2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Bleeding and Platelet Disorders v0.306 SERPINF2 Zornitza Stark Publications for gene: SERPINF2 were set to
Bleeding and Platelet Disorders v0.305 SERPINF2 Zornitza Stark Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.304 SERPINF2 Zornitza Stark reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Marked gene: SERPINE1 as ready
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Gene: serpine1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Bleeding and Platelet Disorders v0.303 SERPINE1 Zornitza Stark Publications for gene: SERPINE1 were set to
Bleeding and Platelet Disorders v0.302 SERPINE1 Zornitza Stark Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.301 SERPINE1 Zornitza Stark reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Marked gene: TBXA2R as ready
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009
Bleeding and Platelet Disorders v0.300 TBXA2R Zornitza Stark Publications for gene: TBXA2R were set to
Bleeding and Platelet Disorders v0.299 TBXA2R Zornitza Stark Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.298 TBXA2R Zornitza Stark Classified gene: TBXA2R as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.298 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.297 TBXA2R Zornitza Stark reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Bleeding and Platelet Disorders v0.296 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Bleeding and Platelet Disorders v0.295 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark changed review comment from: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.; to: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.

Families with bi-allelic and mono-allelic disease reported. Dominant negative mechanism proposed for mono-allelic disease.
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark edited their review of gene: P2RY12: Changed publications: 11196645, 12578987, 29117459, 19237732; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark edited their review of gene: P2RY12: Changed phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Bleeding and Platelet Disorders v0.293 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Bleeding and Platelet Disorders v0.292 MCFD2 Zornitza Stark Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.291 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077,; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.291 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, MIM# 227300 to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Marked gene: LMAN1 as ready
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Gene: lman1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300
Bleeding and Platelet Disorders v0.289 LMAN1 Zornitza Stark Publications for gene: LMAN1 were set to
Bleeding and Platelet Disorders v0.288 LMAN1 Zornitza Stark Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 LMAN1 Zornitza Stark reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark changed review comment from: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.

Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.; to: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.

Glanzmann thrombasthaenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800
Bleeding and Platelet Disorders v0.286 ITGA2B Zornitza Stark Publications for gene: ITGA2B were set to
Bleeding and Platelet Disorders v0.285 ITGA2B Zornitza Stark Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.284 ITGA2B Zornitza Stark reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Bleeding and Platelet Disorders v0.283 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Bleeding and Platelet Disorders v0.282 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.281 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Bleeding and Platelet Disorders v0.280 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Bleeding and Platelet Disorders v0.279 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.278 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Bleeding and Platelet Disorders v0.277 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Bleeding and Platelet Disorders v0.276 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.276 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS3 Zornitza Stark edited their review of gene: HPS3: Added comment: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.

Well established gene-disease association.; Changed phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555
Bleeding and Platelet Disorders v0.275 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Bleeding and Platelet Disorders v0.274 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Bleeding and Platelet Disorders v0.273 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.272 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Marked gene: GP9 as ready
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Gene: gp9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Phenotypes for gene: GP9 were changed from to Bernard-Soulier syndrome, type C, MIM# 231200
Bleeding and Platelet Disorders v0.271 GP9 Zornitza Stark Publications for gene: GP9 were set to
Bleeding and Platelet Disorders v0.270 GP9 Zornitza Stark Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.269 GP9 Zornitza Stark edited their review of gene: GP9: Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.

At least 3 unrelated families reported, animal model.; Changed publications: 8049428, 33553065, 32030720, 31484196
Bleeding and Platelet Disorders v0.269 GP9 Zornitza Stark reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Marked gene: GP6 as ready
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Gene: gp6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Phenotypes for gene: GP6 were changed from to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Bleeding and Platelet Disorders v0.268 GP6 Zornitza Stark Publications for gene: GP6 were set to 19549989; 19552682; 23815599
Bleeding and Platelet Disorders v0.268 GP6 Zornitza Stark Publications for gene: GP6 were set to
Bleeding and Platelet Disorders v0.267 GP6 Zornitza Stark Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.266 GP6 Zornitza Stark reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Marked gene: GP1BB as ready
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
Bleeding and Platelet Disorders v0.265 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
Bleeding and Platelet Disorders v0.264 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.263 GP1BB Zornitza Stark reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Marked gene: FGG as ready
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Gene: fgg has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Phenotypes for gene: FGG were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Bleeding and Platelet Disorders v0.262 FGG Zornitza Stark Publications for gene: FGG were set to
Bleeding and Platelet Disorders v0.261 FGG Zornitza Stark Mode of inheritance for gene: FGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.260 FGG Zornitza Stark reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001902, 11001903, 3337908; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Marked gene: FGB as ready
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Bleeding and Platelet Disorders v0.259 FGB Zornitza Stark Publications for gene: FGB were set to
Bleeding and Platelet Disorders v0.258 FGB Zornitza Stark Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.257 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.257 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432
Bleeding and Platelet Disorders v0.256 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Marked gene: F9 as ready
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807
Bleeding and Platelet Disorders v0.254 F9 Zornitza Stark Publications for gene: F9 were set to
Bleeding and Platelet Disorders v0.253 F9 Zornitza Stark Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.252 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.252 F8 Zornitza Stark Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700 to Haemophilia A, MIM# 306700; MONDO:0010602
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Marked gene: F8 as ready
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Gene: f8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700
Bleeding and Platelet Disorders v0.250 F8 Zornitza Stark Publications for gene: F8 were set to
Bleeding and Platelet Disorders v0.249 F8 Zornitza Stark Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.248 F8 Zornitza Stark reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Marked gene: F7 as ready
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211
Bleeding and Platelet Disorders v0.247 F7 Zornitza Stark Publications for gene: F7 were set to
Bleeding and Platelet Disorders v0.246 F7 Zornitza Stark Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.245 F7 Zornitza Stark reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Marked gene: F5 as ready
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Bleeding and Platelet Disorders v0.244 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.243 F5 Zornitza Stark reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Bleeding and Platelet Disorders v0.242 F13A1 Zornitza Stark Publications for gene: F13A1 were set to
Bleeding and Platelet Disorders v0.241 F13A1 Zornitza Stark Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.240 F13A1 Zornitza Stark reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Marked gene: F10 as ready
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212
Bleeding and Platelet Disorders v0.239 F10 Zornitza Stark Publications for gene: F10 were set to
Bleeding and Platelet Disorders v0.238 F10 Zornitza Stark Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.237 F10 Zornitza Stark edited their review of gene: F10: Changed phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212
Bleeding and Platelet Disorders v0.237 F10 Zornitza Stark reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7, MIM# 614076 to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Bleeding and Platelet Disorders v0.236 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076
Bleeding and Platelet Disorders v0.235 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Bleeding and Platelet Disorders v0.234 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.233 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8, MIM# 614077 to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Bleeding and Platelet Disorders v0.232 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077
Bleeding and Platelet Disorders v0.231 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Bleeding and Platelet Disorders v0.230 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Bleeding and Platelet Disorders v0.228 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Bleeding and Platelet Disorders v0.228 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Bleeding and Platelet Disorders v0.227 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark edited their review of gene: ANO6: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Marked gene: ANO6 as ready
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Gene: ano6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Phenotypes for gene: ANO6 were changed from to Scott syndrome, MIM# 262890; MONDO:0009885
Bleeding and Platelet Disorders v0.225 ANO6 Zornitza Stark Publications for gene: ANO6 were set to
Bleeding and Platelet Disorders v0.224 ANO6 Zornitza Stark Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.223 ANO6 Zornitza Stark edited their review of gene: ANO6: Changed phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885
Bleeding and Platelet Disorders v0.223 ANO6 Zornitza Stark reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890; Mode of inheritance: None
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Marked gene: FGA as ready
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400)
Bleeding and Platelet Disorders v0.222 FGA Zornitza Stark Publications for gene: FGA were set to
Bleeding and Platelet Disorders v0.221 FGA Zornitza Stark Mode of inheritance for gene: FGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.220 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.220 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514
Bleeding and Platelet Disorders v0.219 MFAP5 Zornitza Stark edited their review of gene: MFAP5: Changed phenotypes: Aortic aneurysm, familial thoracic MIM# 616166, MONDO:0014514
Bleeding and Platelet Disorders v0.219 GP1BA Zornitza Stark Marked gene: GP1BA as ready
Bleeding and Platelet Disorders v0.219 GP1BA Zornitza Stark Gene: gp1ba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.219 GP1BA Zornitza Stark Phenotypes for gene: GP1BA were changed from to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930
Bleeding and Platelet Disorders v0.218 GP1BA Zornitza Stark Publications for gene: GP1BA were set to
Bleeding and Platelet Disorders v0.217 GP1BA Zornitza Stark Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.216 GP1BA Zornitza Stark reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Bleeding and Platelet Disorders v0.215 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to
Bleeding and Platelet Disorders v0.214 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.213 ITGB3 Zornitza Stark reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.213 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to 11586351
Bleeding and Platelet Disorders v0.212 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 11586351, 30312976
Bleeding and Platelet Disorders v0.212 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.211 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Marked gene: MAST2 as ready
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Classified gene: MAST2 as Red List (low evidence)
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.210 MAST2 Elena Savva gene: MAST2 was added
gene: MAST2 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST2 were set to PMID: 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets
Sources: Literature
Bleeding and Platelet Disorders v0.210 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, MIM#619172
Bleeding and Platelet Disorders v0.209 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Bleeding and Platelet Disorders v0.208 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Marked gene: MPI as ready
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.207 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Review for gene: MPI was set to GREEN
Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Both bleeding and thrombosis reported. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

Well established gene-disease association, numerous families reported.
Sources: Expert Review
Bleeding and Platelet Disorders v0.206 THBD Bryony Thompson Publications for gene: THBD were set to 25564403; 32634856
Bleeding and Platelet Disorders v0.205 THBD Bryony Thompson Classified gene: THBD as Green List (high evidence)
Bleeding and Platelet Disorders v0.205 THBD Bryony Thompson Gene: thbd has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.204 THBD Bryony Thompson reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.204 Zornitza Stark Panel name changed from Bleeding Disorders to Bleeding and Platelet Disorders
Bleeding and Platelet Disorders v0.203 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.203 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.202 BLOC1S6 Zornitza Stark changed review comment from: At least three unrelated families reported.
Sources: Expert list; to: At least three unrelated families reported, two of the individuals had the same homozygous variant. Note that one of the articles has been retracted due to some of the data having been falsified.
Sources: Expert list
Bleeding and Platelet Disorders v0.202 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER; Changed phenotypes: Hermansky-pudlak syndrome 9, MIM# 614171
Bleeding and Platelet Disorders v0.202 BLOC1S5 Zornitza Stark Marked gene: BLOC1S5 as ready
Bleeding and Platelet Disorders v0.202 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.202 BLOC1S5 Zornitza Stark Classified gene: BLOC1S5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.202 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.201 BLOC1S5 Chirag Patel gene: BLOC1S5 was added
gene: BLOC1S5 was added to Bleeding Disorders. Sources: Literature
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to PMID: 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome type 11, no OMIM#
Review for gene: BLOC1S5 was set to GREEN
gene: BLOC1S5 was marked as current diagnostic
Added comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1, quantitative PCR analysis confirmatory in patient 2).

Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.

Pathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively.
Sources: Literature
Bleeding and Platelet Disorders v0.201 BLOC1S5 Chirag Patel gene: BLOC1S5 was added
gene: BLOC1S5 was added to Bleeding Disorders. Sources: Literature
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to PMID: 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome type 11, no OMIM#
Review for gene: BLOC1S5 was set to GREEN
gene: BLOC1S5 was marked as current diagnostic
Added comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1, quantitative PCR analysis confirmatory in patient 2).

Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.

Pathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively.
Sources: Literature
Bleeding and Platelet Disorders v0.200 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Bleeding and Platelet Disorders v0.200 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.200 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)
Bleeding and Platelet Disorders v0.199 HPS5 Zornitza Stark Publications for gene: HPS5 were set to
Bleeding and Platelet Disorders v0.198 HPS5 Zornitza Stark Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.197 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.196 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Review for gene: WIPF1 was set to GREEN
Added comment: Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Bleeding and Platelet Disorders v0.195 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.195 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.194 HOXA11 Zornitza Stark commented on gene: HOXA11: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. Two families reported in 2000, segregating same variant. Some functional data. No further reports since.
Bleeding and Platelet Disorders v0.194 HOXA11 Zornitza Stark edited their review of gene: HOXA11: Changed rating: AMBER; Changed phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432
Bleeding and Platelet Disorders v0.194 PTPRJ Zornitza Stark Marked gene: PTPRJ as ready
Bleeding and Platelet Disorders v0.194 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Marked gene: WAS as ready
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Classified gene: WAS as Green List (high evidence)
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.193 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Review for gene: WAS was set to GREEN
Added comment: Well established gene-disease association. Thrombocytopaenia is a key feature of Wiskott-Aldrich syndrome and isolated thrombocytopaenia also described with WAS variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.191 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473
Review for gene: VKORC1 was set to GREEN
Added comment: Severe presentation with intracranial haemorrhage in first few weeks of life reported with bi-allelic variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.189 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: A defect in platelet alpha-granule biogenesis is a key feature of the syndrome.
Sources: Expert list
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.187 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 26399659; 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Review for gene: VPS33B was set to GREEN
Added comment: Reports of life-threatening haemorrhage in the context of biopsies in ARC syndrome patients, and experimental data supporting a role of VPS33B in platelet activation.
Sources: Expert list
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Classified gene: TUBB1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.185 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486
Phenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
Review for gene: TUBB1 was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Classified gene: TPM4 as Green List (high evidence)
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.183 TPM4 Zornitza Stark gene: TPM4 was added
gene: TPM4 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 31249973; 21153663
Phenotypes for gene: TPM4 were set to Macrothrombocytopenia
Review for gene: TPM4 was set to GREEN
Added comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets.
Sources: Expert list
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Marked gene: TNXB as ready
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Classified gene: TNXB as Green List (high evidence)
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.181 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408
Review for gene: TNXB was set to GREEN
Added comment: Can present with significant bruising.
Sources: Expert list
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Marked gene: THPO as ready
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Classified gene: THPO as Green List (high evidence)
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.179 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 9425899; 10583217
Phenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950
Review for gene: THPO was set to GREEN
Added comment: Both thrombotic and bleeding episodes described with this platelet disorder.
Sources: Expert list
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Marked gene: THBD as ready
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Classified gene: THBD as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.177 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBD were set to 25564403; 32634856
Phenotypes for gene: THBD were set to Bleeding disorder
Review for gene: THBD was set to AMBER
Added comment: Variants in this gene have been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.
Sources: Expert list
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168
Bleeding and Platelet Disorders v0.175 TGFBR2 Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.174 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192
Bleeding and Platelet Disorders v0.173 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.172 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
Bleeding and Platelet Disorders v0.171 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.170 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Bleeding and Platelet Disorders v0.169 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.168 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Classified gene: TBXAS1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.167 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Review for gene: TBXAS1 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this condition.
Sources: Expert list
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Classified gene: STIM1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.165 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070
Review for gene: STIM1 was set to GREEN
Added comment: Well established gene-disease association, mild bleeding tendency due to platelet dysfunction and thrombocytopaenia.
Sources: Expert list
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Marked gene: SRC as ready
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Classified gene: SRC as Green List (high evidence)
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.163 SRC Zornitza Stark gene: SRC was added
gene: SRC was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Review for gene: SRC was set to GREEN
Added comment: Two families, and convincing functional data including animal model.
Sources: Expert list
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Bleeding and Platelet Disorders v0.161 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Bleeding and Platelet Disorders v0.160 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.159 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050, Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Bleeding and Platelet Disorders v0.158 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.157 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Marked gene: SLFN14 as ready
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Classified gene: SLFN14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.156 SLFN14 Zornitza Stark gene: SLFN14 was added
gene: SLFN14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Review for gene: SLFN14 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050
Bleeding and Platelet Disorders v0.154 SLC2A10 Zornitza Stark Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.153 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Marked gene: SKI as ready
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Gene: ski has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212
Bleeding and Platelet Disorders v0.152 SKI Zornitza Stark Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.151 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Classified gene: RUNX1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.150 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RUNX1 were set to 10508512
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Review for gene: RUNX1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Classified gene: RBM8A as Green List (high evidence)
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.148 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Review for gene: RBM8A was set to GREEN
Added comment: Note common deletion on chromosome 1q21.1 is usually involved.
Sources: Expert list
Bleeding and Platelet Disorders v0.147 PTPRJ Zornitza Stark edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopaenia
Bleeding and Platelet Disorders v0.147 PTPRJ Zornitza Stark Phenotypes for gene: PTPRJ were changed from Thrombocytopania to Thrombocytopaenia
Bleeding and Platelet Disorders v0.146 PTPRJ Zornitza Stark Classified gene: PTPRJ as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.146 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.145 PTPRJ Zornitza Stark gene: PTPRJ was added
gene: PTPRJ was added to Bleeding Disorders. Sources: Expert list
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 Thrombocytopania
Review for gene: PTPRJ was set to AMBER
Added comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model.
Sources: Expert list
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Classified gene: PTPN11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.143 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950
Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PTPN11 was set to GREEN
Added comment: Thrombocytopaenia and bleeding tendency are common features of PTPN11-associated Noonan syndrome.
Sources: Expert list
Bleeding and Platelet Disorders v0.142 PTGS1 Zornitza Stark Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Marked gene: PTGS1 as ready
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Classified gene: PTGS1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.140 PTGS1 Zornitza Stark edited their review of gene: PTGS1: Changed publications: 32299908, 11442478, 27629384, 8562397
Bleeding and Platelet Disorders v0.140 PTGS1 Zornitza Stark gene: PTGS1 was added
gene: PTGS1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding
Review for gene: PTGS1 was set to AMBER
Added comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level.
Sources: Expert list
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Marked gene: PRKG1 as ready
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436
Bleeding and Platelet Disorders v0.138 PRKG1 Zornitza Stark Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.137 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark Marked gene: PRKACG as ready
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark Gene: prkacg has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark gene: PRKACG was added
gene: PRKACG was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKACG were set to 25061177; 30819905
Phenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176
Review for gene: PRKACG was set to RED
Added comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual.
Sources: Expert list
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Marked gene: PLAU as ready
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Classified gene: PLAU as Green List (high evidence)
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.135 PLAU Zornitza Stark gene: PLAU was added
gene: PLAU was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Review for gene: PLAU was set to GREEN
Added comment: Note this is a tandem 78kb duplication of the gene.
Sources: Expert list
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Marked gene: PLA2G4A as ready
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Classified gene: PLA2G4A as Green List (high evidence)
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.133 PLA2G4A Zornitza Stark gene: PLA2G4A was added
gene: PLA2G4A was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 18451993; 25102815; 23268370
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Review for gene: PLA2G4A was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Aortic aneurysm
Bleeding and Platelet Disorders v0.131 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Bleeding and Platelet Disorders v0.130 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.129 NOTCH1 Zornitza Stark reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064, 16025100, 25963545; Phenotypes: Aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.129 NBEAL2 Zornitza Stark Publications for gene: NBEAL2 were set to
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark edited their review of gene: NBEAL2: Changed publications: 21765412, 21765411, 21765413; Changed phenotypes: Gray platelet syndrome, MIM# 139090
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Classified gene: NBEAL2 as Green List (high evidence)
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.127 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
Review for gene: NBEAL2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Marked gene: MYLK as ready
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Gene: mylk has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM# 613780
Bleeding and Platelet Disorders v0.125 MYLK Zornitza Stark Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.124 MYLK Zornitza Stark reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM# 613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Classified gene: MYH9 as Green List (high evidence)
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.123 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Review for gene: MYH9 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900
Bleeding and Platelet Disorders v0.121 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.120 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Marked gene: MPL as ready
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Classified gene: MPL as Green List (high evidence)
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.119 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 11133753
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Review for gene: MPL was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Marked gene: MPIG6B as ready
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Classified gene: MPIG6B as Green List (high evidence)
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.117 MPIG6B Zornitza Stark gene: MPIG6B was added
gene: MPIG6B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 31276734; 29898956; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Review for gene: MPIG6B was set to GREEN
Added comment: Six families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Marked gene: MFAP5 as ready
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from to Aortic aneurysm, familial thoracic MIM# 616166
Bleeding and Platelet Disorders v0.115 MFAP5 Zornitza Stark Publications for gene: MFAP5 were set to
Bleeding and Platelet Disorders v0.114 MFAP5 Zornitza Stark Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.113 MFAP5 Zornitza Stark Classified gene: MFAP5 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.113 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.112 MFAP5 Zornitza Stark reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006, 30763214; Phenotypes: Aortic aneurysm, familial thoracic MIM# 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Marked gene: MED12 as ready
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520
Bleeding and Platelet Disorders v0.111 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.110 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lujan-Fryns syndrome, MIM# 309520; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Marked gene: MECOM as ready
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Classified gene: MECOM as Green List (high evidence)
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.109 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738
Review for gene: MECOM was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Marked gene: MAT2A as ready
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm
Bleeding and Platelet Disorders v0.107 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm
Bleeding and Platelet Disorders v0.106 MAT2A Zornitza Stark Publications for gene: MAT2A were set to
Bleeding and Platelet Disorders v0.105 MAT2A Zornitza Stark Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.104 MAT2A Zornitza Stark Classified gene: MAT2A as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.104 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.103 MAT2A Zornitza Stark reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Marked gene: LYST as ready
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Classified gene: LYST as Green List (high evidence)
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.102 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500
Review for gene: LYST was set to GREEN
Added comment: Well established gene-disease association, thrombocytopaenia is a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Marked gene: LOX as ready
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Gene: lox has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168
Bleeding and Platelet Disorders v0.100 LOX Zornitza Stark Publications for gene: LOX were set to
Bleeding and Platelet Disorders v0.99 LOX Zornitza Stark Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.98 LOX Zornitza Stark edited their review of gene: LOX: Added comment: Gene-disease association with aortic aneurysm rated as strong by ClinGen.; Changed publications: 30071989, 26838787, 30675029
Bleeding and Platelet Disorders v0.98 LOX Zornitza Stark reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Marked gene: KDSR as ready
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Classified gene: KDSR as Green List (high evidence)
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.97 KDSR Zornitza Stark gene: KDSR was added
gene: KDSR was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589; 30467204
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Review for gene: KDSR was set to GREEN
Added comment: At least 5 families reported where thrombocytopaenia was a significant feature in addition to the eryhtrokeratoderma.
Sources: Expert list
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Classified gene: HOXA11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.95 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to 11101832; 16765069
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432
Review for gene: HOXA11 was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Marked gene: GNE as ready
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Classified gene: GNE as Green List (high evidence)
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.93 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 30171045; 32505938; 29941673; 25257349
Phenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy
Review for gene: GNE was set to GREEN
Added comment: Multiple reports of thrombocytopaenia associated with bi-allelic variants in this gene, without or without a muscle phenotype. Note bi-allelic variants classically cause Nonaka myopathy.
Sources: Expert list
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Marked gene: GGCX as ready
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Classified gene: GGCX as Green List (high evidence)
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.91 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662; 30531603; 26758921
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Review for gene: GGCX was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Marked gene: GBA as ready
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Classified gene: GBA as Green List (high evidence)
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.89 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease
Review for gene: GBA was set to GREEN
Added comment: Thrombocytopaenia secondary to hypersplenism.
Sources: Expert list
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.87 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Review for gene: GATA1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Marked gene: FYB1 as ready
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Classified gene: FYB1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.85 FYB1 Zornitza Stark gene: FYB1 was added
gene: FYB1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FYB1 were set to 25516138; 25876182
Phenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM# 273900
Review for gene: FYB1 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349
Bleeding and Platelet Disorders v0.83 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Bleeding and Platelet Disorders v0.82 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.81 FOXE3 Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.81 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.80 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Marked gene: FLNA as ready
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Publications for gene: FLNA were set to
Bleeding and Platelet Disorders v0.79 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Macrothrombocytopaenia
Bleeding and Platelet Disorders v0.78 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.77 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32299270; Phenotypes: Macrothrombocytopaenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Marked gene: FLI1 as ready
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Gene: fli1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Classified gene: FLI1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Gene: fli1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.76 FLI1 Zornitza Stark gene: FLI1 was added
gene: FLI1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLI1 were set to 24100448; 28255014; 26316623
Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Review for gene: FLI1 was set to GREEN
Added comment: Association with mono-allelic variants better established than bi-allelic variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.75 Zornitza Stark removed gene:FLII from the panel
Bleeding and Platelet Disorders v0.74 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FLII was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLII were set to 24100448; 28255014; 26316623
Phenotypes for gene: FLII were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Review for gene: FLII was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Classified gene: FERMT3 as Green List (high evidence)
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.72 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Review for gene: FERMT3 was set to GREEN
Added comment: Epistaxis, mucosal bleeding, defective platelet adhesion.
Sources: Expert list
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700
Bleeding and Platelet Disorders v0.70 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.69 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Classified gene: ETV6 as Green List (high evidence)
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.68 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25581430; 25807284
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
Review for gene: ETV6 was set to GREEN
Added comment: At least 6 families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.66 EPHB2 Zornitza Stark gene: EPHB2 was added
gene: EPHB2 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: EPHB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHB2 were set to 30213874; 25370417
Phenotypes for gene: EPHB2 were set to Bleeding disorder, platelet-type, 22, MIM# 618462
Review for gene: EPHB2 was set to AMBER
Added comment: Single family and a mouse model.
Sources: Expert list
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Marked gene: ENG as ready
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.64 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Review for gene: ENG was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.62 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH1 were set to 26912466; 27808407]
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Review for gene: DIAPH1 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Marked gene: CYCS as ready
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Classified gene: CYCS as Green List (high evidence)
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.60 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; 18345000; 30051457
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004
Review for gene: CYCS was set to GREEN
Added comment: At least three families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2, MIM# 130010
Bleeding and Platelet Disorders v0.58 COL5A2 Zornitza Stark Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.57 COL5A2 Zornitza Stark Classified gene: COL5A2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.57 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.56 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM# 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, MIM# 130000
Bleeding and Platelet Disorders v0.55 COL5A1 Zornitza Stark Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.54 COL5A1 Zornitza Stark Classified gene: COL5A1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.54 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.53 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, MIM# 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark edited their review of gene: COL3A1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Bleeding and Platelet Disorders v0.52 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.51 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Classified gene: CHST14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.50 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Review for gene: CHST14 was set to GREEN
Added comment: Large haematomas are a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Classified gene: CDC42 as Green List (high evidence)
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.48 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 29394990
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737
Review for gene: CDC42 was set to GREEN
Added comment: Well established gene-disease association. Macrothrombocytopaenia is a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Marked gene: CBS as ready
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Thrombosis, hyperhomocysteinemic, MIM# 236200; Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Bleeding and Platelet Disorders v0.46 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.45 CBS Zornitza Stark Classified gene: CBS as Red List (low evidence)
Bleeding and Platelet Disorders v0.45 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.44 CBS Zornitza Stark reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombosis, hyperhomocysteinemic, MIM# 236200, Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Green List (high evidence)
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.43 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 32245340; 22461475
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171
Review for gene: BLOC1S6 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.41 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 28368018; 27965109; 29127144; 30254128
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718
Review for gene: ARPC1B was set to GREEN
Added comment: At least 9 unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Green List (high evidence)
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.38 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD26 were set to 21211618
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2, MIM# 188000
Review for gene: ANKRD26 was set to GREEN
Added comment: Note promoter variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Classified gene: ADAMTS13 as Green List (high evidence)
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.36 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTS13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAMTS13 were set to 11586351
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Review for gene: ADAMTS13 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.34 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Classified gene: ACTN1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.32 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN1 were set to 23434115
Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193
Review for gene: ACTN1 was set to GREEN
Added comment: At least 6 unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark changed review comment from: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list; to: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Marked gene: ACTB as ready
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.30 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159
Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia
Review for gene: ACTB was set to GREEN
Added comment: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788
Bleeding and Platelet Disorders v0.28 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.27 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Classified gene: ABCG8 as Green List (high evidence)
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.26 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 32546081; 23556150
Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250
Review for gene: ABCG8 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Classified gene: ABCG5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.24 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG5 were set to 32546081; 23556150
Phenotypes for gene: ABCG5 were set to Sitosterolemia 2, MIM# 618666
Review for gene: ABCG5 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Bleeding and Platelet Disorders v0.23 RASGRP2 Zornitza Stark Marked gene: RASGRP2 as ready
Bleeding and Platelet Disorders v0.23 RASGRP2 Zornitza Stark Gene: rasgrp2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.23 RASGRP2 Zornitza Stark Classified gene: RASGRP2 as Green List (high evidence)
Bleeding and Platelet Disorders v0.23 RASGRP2 Zornitza Stark Gene: rasgrp2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.22 RASGRP2 Zornitza Stark gene: RASGRP2 was added
gene: RASGRP2 was added to Bleeding Disorders. Sources: Literature
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 24958846; 32609603; 32041177; 31724816; 30849270
Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18, MIM# 615888
Review for gene: RASGRP2 was set to GREEN
Added comment: Multiple affected families reported.
Sources: Literature
Bleeding and Platelet Disorders v0.21 GFI1B Bryony Thompson Marked gene: GFI1B as ready
Bleeding and Platelet Disorders v0.21 GFI1B Bryony Thompson Gene: gfi1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.21 GFI1B Bryony Thompson Classified gene: GFI1B as Green List (high evidence)
Bleeding and Platelet Disorders v0.21 GFI1B Bryony Thompson Gene: gfi1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.20 GFI1B Bryony Thompson gene: GFI1B was added
gene: GFI1B was added to Bleeding Disorders. Sources: Literature
Mode of inheritance for gene: GFI1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GFI1B were set to 24325358; 23927492; 28041820; 11825872
Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17 MIM#187900
Review for gene: GFI1B was set to GREEN
Added comment: Three families with a heterozygous variant and one case with a homozygous variant, with supporting in vitro functional assays. A null mouse model contained erythroid and megakaryocytic precursors arrested in their development.
Sources: Literature
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Marked gene: F11 as ready
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Gene: f11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Bleeding and Platelet Disorders v0.18 F11 Zornitza Stark Publications for gene: F11 were set to
Bleeding and Platelet Disorders v0.17 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.16 F11 Zornitza Stark reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: 18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.16 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Bleeding and Platelet Disorders v0.16 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.16 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118
Bleeding and Platelet Disorders v0.15 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.14 FBN2 Zornitza Stark Classified gene: FBN2 as Red List (low evidence)
Bleeding and Platelet Disorders v0.14 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.13 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.13 F13B Zornitza Stark Marked gene: F13B as ready
Bleeding and Platelet Disorders v0.13 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.13 F13B Zornitza Stark Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, MIM#613235
Bleeding and Platelet Disorders v0.12 F13B Zornitza Stark Publications for gene: F13B were set to
Bleeding and Platelet Disorders v0.11 F13B Zornitza Stark Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.10 F13B Zornitza Stark reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20331752, 26247044; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Tag 5'UTR tag was added to gene: F2.
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Marked gene: F2 as ready
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Bleeding and Platelet Disorders v0.9 F2 Zornitza Stark Publications for gene: F2 were set to
Bleeding and Platelet Disorders v0.8 F2 Zornitza Stark Mode of pathogenicity for gene: F2 was changed from to Other
Bleeding and Platelet Disorders v0.7 F2 Zornitza Stark Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.6 F2 Michelle Torres reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.5 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Bleeding Disorders. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease.
Sources: Expert Review
Bleeding and Platelet Disorders v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bleeding and Platelet Disorders v0.3 Zornitza Stark Panel name changed from Bleeding Disorders_VCGS to Bleeding Disorders
Panel types changed to Victorian Clinical Genetics Services
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Marked gene: VWF as ready
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Gene: vwf has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM#193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554; von Willibrand disease, type 3, MIM#277480
Bleeding and Platelet Disorders v0.1 VWF Zornitza Stark Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.0 VWF Chern Lim changed review comment from: Loss of function variants have been reported in both dominant and recessive form of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually carries null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).; to: Loss of function variants have been reported in both dominant and recessive forms of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually associated with null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).
Bleeding and Platelet Disorders v0.0 VWF Chern Lim reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM#193400, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554, von Willibrand disease, type 3, MIM#277480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VWF was set to Unknown
Bleeding and Platelet Disorders v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR2 was set to Unknown
Bleeding and Platelet Disorders v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR1 was set to Unknown
Bleeding and Platelet Disorders v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB3 was set to Unknown
Bleeding and Platelet Disorders v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB2 was set to Unknown
Bleeding and Platelet Disorders v0.0 TBXA2R Zornitza Stark gene: TBXA2R was added
gene: TBXA2R was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBXA2R was set to Unknown
Bleeding and Platelet Disorders v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD4 was set to Unknown
Bleeding and Platelet Disorders v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD3 was set to Unknown
Bleeding and Platelet Disorders v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A10 was set to Unknown
Bleeding and Platelet Disorders v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SKI was set to Unknown
Bleeding and Platelet Disorders v0.0 SERPINF2 Zornitza Stark gene: SERPINF2 was added
gene: SERPINF2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINF2 was set to Unknown
Bleeding and Platelet Disorders v0.0 SERPINE1 Zornitza Stark gene: SERPINE1 was added
gene: SERPINE1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINE1 was set to Unknown
Bleeding and Platelet Disorders v0.0 PRKG1 Zornitza Stark gene: PRKG1 was added
gene: PRKG1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKG1 was set to Unknown
Bleeding and Platelet Disorders v0.0 P2RY12 Zornitza Stark gene: P2RY12 was added
gene: P2RY12 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: P2RY12 was set to Unknown
Bleeding and Platelet Disorders v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH1 was set to Unknown
Bleeding and Platelet Disorders v0.0 MYLK Zornitza Stark gene: MYLK was added
gene: MYLK was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYLK was set to Unknown
Bleeding and Platelet Disorders v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH11 was set to Unknown
Bleeding and Platelet Disorders v0.0 MFAP5 Zornitza Stark gene: MFAP5 was added
gene: MFAP5 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFAP5 was set to Unknown
Bleeding and Platelet Disorders v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED12 was set to Unknown
Bleeding and Platelet Disorders v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCFD2 was set to Unknown
Bleeding and Platelet Disorders v0.0 MAT2A Zornitza Stark gene: MAT2A was added
gene: MAT2A was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAT2A was set to Unknown
Bleeding and Platelet Disorders v0.0 LOX Zornitza Stark gene: LOX was added
gene: LOX was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LOX was set to Unknown
Bleeding and Platelet Disorders v0.0 LMAN1 Zornitza Stark gene: LMAN1 was added
gene: LMAN1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMAN1 was set to Unknown
Bleeding and Platelet Disorders v0.0 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB3 was set to Unknown
Bleeding and Platelet Disorders v0.0 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA2B was set to Unknown
Bleeding and Platelet Disorders v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to Unknown
Bleeding and Platelet Disorders v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS5 was set to Unknown
Bleeding and Platelet Disorders v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS4 was set to Unknown
Bleeding and Platelet Disorders v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS3 was set to Unknown
Bleeding and Platelet Disorders v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS1 was set to Unknown
Bleeding and Platelet Disorders v0.0 GP9 Zornitza Stark gene: GP9 was added
gene: GP9 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GP9 was set to Unknown
Bleeding and Platelet Disorders v0.0 GP6 Zornitza Stark gene: GP6 was added
gene: GP6 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GP6 was set to Unknown
Bleeding and Platelet Disorders v0.0 GP1BB Zornitza Stark gene: GP1BB was added
gene: GP1BB was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GP1BB was set to Unknown
Bleeding and Platelet Disorders v0.0 GP1BA Zornitza Stark gene: GP1BA was added
gene: GP1BA was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GP1BA was set to Unknown
Bleeding and Platelet Disorders v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXE3 was set to Unknown
Bleeding and Platelet Disorders v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNA was set to Unknown
Bleeding and Platelet Disorders v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGG was set to Unknown
Bleeding and Platelet Disorders v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGB was set to Unknown
Bleeding and Platelet Disorders v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGA was set to Unknown
Bleeding and Platelet Disorders v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBN2 was set to Unknown
Bleeding and Platelet Disorders v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBN1 was set to Unknown
Bleeding and Platelet Disorders v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F9 was set to Unknown
Bleeding and Platelet Disorders v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F8 was set to Unknown
Bleeding and Platelet Disorders v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F7 was set to Unknown
Bleeding and Platelet Disorders v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F5 was set to Unknown
Bleeding and Platelet Disorders v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F2 was set to Unknown
Bleeding and Platelet Disorders v0.0 F13B Zornitza Stark gene: F13B was added
gene: F13B was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F13B was set to Unknown
Bleeding and Platelet Disorders v0.0 F13A1 Zornitza Stark gene: F13A1 was added
gene: F13A1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F13A1 was set to Unknown
Bleeding and Platelet Disorders v0.0 F11 Zornitza Stark gene: F11 was added
gene: F11 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F11 was set to Unknown
Bleeding and Platelet Disorders v0.0 F10 Zornitza Stark gene: F10 was added
gene: F10 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F10 was set to Unknown
Bleeding and Platelet Disorders v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DTNBP1 was set to Unknown
Bleeding and Platelet Disorders v0.0 COL5A2 Zornitza Stark gene: COL5A2 was added
gene: COL5A2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL5A2 was set to Unknown
Bleeding and Platelet Disorders v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL5A1 was set to Unknown
Bleeding and Platelet Disorders v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL3A1 was set to Unknown
Bleeding and Platelet Disorders v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CBS was set to Unknown
Bleeding and Platelet Disorders v0.0 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLOC1S3 was set to Unknown
Bleeding and Platelet Disorders v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP3B1 was set to Unknown
Bleeding and Platelet Disorders v0.0 ANO6 Zornitza Stark gene: ANO6 was added
gene: ANO6 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANO6 was set to Unknown
Bleeding and Platelet Disorders v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTA2 was set to Unknown
Bleeding and Platelet Disorders v0.0 Zornitza Stark Added panel Bleeding Disorders_VCGS