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| 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 v1.53 | 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 v1.47 | 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 |
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| 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 |
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| 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 |
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| Bleeding and Platelet Disorders v1.45 | PIGA | Zornitza Stark Tag somatic tag was added to gene: PIGA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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| 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 v1.38 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v1.16 | 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 |
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| 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 | AP3B1 |
Zornitza Stark Tag treatable tag was added to gene: AP3B1. Tag clinical trial tag was added to gene: AP3B1. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.302 | 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 v0.299 | TBXA2R | Zornitza Stark Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.295 | 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 v0.292 | MCFD2 | Zornitza Stark Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.285 | 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 v0.282 | HPS6 | Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.276 | 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 v0.273 | HPS1 | Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.267 | GP6 | Zornitza Stark Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.261 | FGG | Zornitza Stark Mode of inheritance for gene: FGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.253 | 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 v0.249 | 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 v0.246 | F7 | Zornitza Stark Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.241 | F13A1 | Zornitza Stark Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.234 | DTNBP1 | Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.227 | AP3B1 | Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.221 | FGA | Zornitza Stark Mode of inheritance for gene: FGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.214 | ITGB3 | Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.212 | 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 v0.210 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.196 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.173 | TGFBR1 | Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.171 | TGFB3 | Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.169 | TGFB2 | Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.167 | 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 |
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| 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 |
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| 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 |
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| 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 v0.158 | SMAD3 | Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.156 | 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 |
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| 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 v0.152 | SKI | Zornitza Stark Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.150 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 | 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 |
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| 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 |
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| 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 |
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| 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 v0.127 | 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 |
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| 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 v0.123 | 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 |
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| 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 v0.119 | 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 |
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| 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 |
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| 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 v0.111 | 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 v0.109 | 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 |
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| 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 v0.102 | 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 |
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| 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 v0.97 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.78 | 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 v0.76 | 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 |
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| 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 |
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| 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 |
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| 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 v0.68 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.55 | COL5A1 | Zornitza Stark Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.52 | COL3A1 | Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.50 | 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 |
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| 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 |
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| 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 v0.43 | 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 |
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| 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 |
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| Bleeding and Platelet Disorders v0.39 | ANKRD26 | Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.26 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.15 | FBN2 | Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.11 | F13B | Zornitza Stark Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.10 | F2 | Zornitza Stark Tag 5'UTR tag was added to gene: F2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.5 | 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 |
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| 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 |
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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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