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Severe Paediatric Disorders v0.17 GLA Louise Daugherty Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.12 GLA Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GLA Louise Daugherty Publications for gene GLA were updated from to 30847515
Severe Paediatric Disorders v0.10 TEK Louise Daugherty Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
Severe Paediatric Disorders v0.10 SATB2 Louise Daugherty Added phenotypes Glass syndrome, 612313 for gene: SATB2
Severe Paediatric Disorders v0.10 LTBP2 Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
Severe Paediatric Disorders v0.10 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.10 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.10 GLA Louise Daugherty Added phenotypes Fabry disease, cardiac variant, 301500; Fabry disease, 301500 for gene: GLA
Severe Paediatric Disorders v0.10 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.10 CYP1B1 Louise Daugherty Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315 for gene: CYP1B1
Severe Paediatric Disorders v0.9 TEK Louise Daugherty Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
Severe Paediatric Disorders v0.9 SATB2 Louise Daugherty Added phenotypes Glass syndrome, 612313 for gene: SATB2
Severe Paediatric Disorders v0.9 LTBP2 Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 GLA Louise Daugherty Added phenotypes Fabry disease, cardiac variant, 301500; Fabry disease, 301500 for gene: GLA
Severe Paediatric Disorders v0.9 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.9 CYP1B1 Louise Daugherty Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315 for gene: CYP1B1
Severe Paediatric Disorders v0.9 TEK Louise Daugherty Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
Severe Paediatric Disorders v0.9 SATB2 Louise Daugherty Added phenotypes Glass syndrome, 612313 for gene: SATB2
Severe Paediatric Disorders v0.9 LTBP2 Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 GLA Louise Daugherty Added phenotypes Fabry disease, cardiac variant, 301500; Fabry disease, 301500 for gene: GLA
Severe Paediatric Disorders v0.9 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.9 CYP1B1 Louise Daugherty Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315 for gene: CYP1B1
Severe Paediatric Disorders v0.8 TEK Louise Daugherty Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
Severe Paediatric Disorders v0.8 SATB2 Louise Daugherty Added phenotypes Glass syndrome, 612313 for gene: SATB2
Severe Paediatric Disorders v0.8 LTBP2 Louise Daugherty Added phenotypes Glaucoma 3, primary congenital, D, 613086; ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 for gene: LTBP2
Severe Paediatric Disorders v0.8 ITGB3 Louise Daugherty Added phenotypes Purpura, posttransfusion; Thrombocytopenia, neonatal alloimmune; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.8 ITGA2B Louise Daugherty Added phenotypes Thrombocytopenia, neonatal alloimmune, BAK antigen related; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.8 GLA Louise Daugherty Added phenotypes Fabry disease, 301500; Fabry disease, cardiac variant, 301500 for gene: GLA
Severe Paediatric Disorders v0.8 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.8 CYP1B1 Louise Daugherty Added phenotypes Anterior segment dysgenesis 6, multiple subtypes, 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 for gene: CYP1B1
Severe Paediatric Disorders v0.8 TEK Louise Daugherty Mode of inheritance for gene TEK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
Severe Paediatric Disorders v0.8 SATB2 Louise Daugherty Mode of inheritance for gene SATB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glass syndrome, 612313 for gene: SATB2
Severe Paediatric Disorders v0.7 GLA Louise Daugherty Source Next Generation Children Project was added to GLA.
Severe Paediatric Disorders v0.5 GLA Louise Daugherty Source Expert Review Green was added to GLA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GLA Louise Daugherty gene: GLA was added
gene: GLA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GLA was set to