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Severe Paediatric Disorders v1.111 ADA2 Arina Puzriakova Phenotypes for gene: ADA2 were changed from Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410
Severe Paediatric Disorders v1.66 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Severe Paediatric Disorders v0.17 ADAT3 Louise Daugherty Mode of inheritance for gene ADAT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAR Louise Daugherty Mode of inheritance for gene ADAR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTSL2 Louise Daugherty Mode of inheritance for gene ADAMTSL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTS17 Louise Daugherty Mode of inheritance for gene ADAMTS17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTS13 Louise Daugherty Mode of inheritance for gene ADAMTS13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTS10 Louise Daugherty Mode of inheritance for gene ADAMTS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADA2 Louise Daugherty Mode of inheritance for gene ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADA Louise Daugherty Mode of inheritance for gene ADA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ADAM17 Louise Daugherty reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 STRADA Louise Daugherty reviewed gene: STRADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAT3 Louise Daugherty reviewed gene: ADAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTSL2 Louise Daugherty reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS17 Louise Daugherty reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS13 Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS10 Louise Daugherty reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADA2 Louise Daugherty reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADA Louise Daugherty reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ADAM17 Louise Daugherty Publications for gene ADAM17 were updated from to 30847515
Severe Paediatric Disorders v0.11 STRADA Louise Daugherty Publications for gene STRADA were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAT3 Louise Daugherty Publications for gene ADAT3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAR Louise Daugherty Publications for gene ADAR were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAMTSL2 Louise Daugherty Publications for gene ADAMTSL2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAMTS17 Louise Daugherty Publications for gene ADAMTS17 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAMTS13 Louise Daugherty Publications for gene ADAMTS13 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAMTS10 Louise Daugherty Publications for gene ADAMTS10 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADA2 Louise Daugherty Publications for gene ADA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADA Louise Daugherty Publications for gene ADA were updated from to 30847515
Severe Paediatric Disorders v0.10 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.10 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.10 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.10 RBPJ Louise Daugherty Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
Severe Paediatric Disorders v0.10 NOTCH1 Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
Severe Paediatric Disorders v0.10 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
Severe Paediatric Disorders v0.10 KCND3 Louise Daugherty Added phenotypes Brugada syndrome 9, 616399; Spinocerebellar ataxia 19, 607346 for gene: KCND3
Severe Paediatric Disorders v0.10 EOGT Louise Daugherty Added phenotypes Adams-Oliver syndrome 4, 615297 for gene: EOGT
Severe Paediatric Disorders v0.10 DOCK6 Louise Daugherty Added phenotypes Adams-Oliver syndrome 2, 614219 for gene: DOCK6
Severe Paediatric Disorders v0.10 DLL4 Louise Daugherty Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4
Severe Paediatric Disorders v0.10 CACNA1C Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.10 ARHGAP31 Louise Daugherty Added phenotypes Adams-Oliver syndrome 1, 100300 for gene: ARHGAP31
Severe Paediatric Disorders v0.10 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.10 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.10 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.10 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.10 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.10 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.10 ADA2 Louise Daugherty Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 for gene: ADA2
Severe Paediatric Disorders v0.10 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.9 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.9 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.9 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.9 RBPJ Louise Daugherty Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
Severe Paediatric Disorders v0.9 NOTCH1 Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
Severe Paediatric Disorders v0.9 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
Severe Paediatric Disorders v0.9 KCND3 Louise Daugherty Added phenotypes Brugada syndrome 9, 616399; Spinocerebellar ataxia 19, 607346 for gene: KCND3
Severe Paediatric Disorders v0.9 EOGT Louise Daugherty Added phenotypes Adams-Oliver syndrome 4, 615297 for gene: EOGT
Severe Paediatric Disorders v0.9 DOCK6 Louise Daugherty Added phenotypes Adams-Oliver syndrome 2, 614219 for gene: DOCK6
Severe Paediatric Disorders v0.9 DLL4 Louise Daugherty Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4
Severe Paediatric Disorders v0.9 CACNA1C Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.9 ARHGAP31 Louise Daugherty Added phenotypes Adams-Oliver syndrome 1, 100300 for gene: ARHGAP31
Severe Paediatric Disorders v0.9 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.9 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.9 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.9 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.9 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.9 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.9 ADA2 Louise Daugherty Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 for gene: ADA2
Severe Paediatric Disorders v0.9 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.9 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.9 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.9 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.9 RBPJ Louise Daugherty Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
Severe Paediatric Disorders v0.9 NOTCH1 Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
Severe Paediatric Disorders v0.9 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
Severe Paediatric Disorders v0.9 KCND3 Louise Daugherty Added phenotypes Brugada syndrome 9, 616399; Spinocerebellar ataxia 19, 607346 for gene: KCND3
Severe Paediatric Disorders v0.9 EOGT Louise Daugherty Added phenotypes Adams-Oliver syndrome 4, 615297 for gene: EOGT
Severe Paediatric Disorders v0.9 DOCK6 Louise Daugherty Added phenotypes Adams-Oliver syndrome 2, 614219 for gene: DOCK6
Severe Paediatric Disorders v0.9 DLL4 Louise Daugherty Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4
Severe Paediatric Disorders v0.9 CACNA1C Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.9 ARHGAP31 Louise Daugherty Added phenotypes Adams-Oliver syndrome 1, 100300 for gene: ARHGAP31
Severe Paediatric Disorders v0.9 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.9 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.9 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.9 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.9 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.9 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.9 ADA2 Louise Daugherty Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 for gene: ADA2
Severe Paediatric Disorders v0.9 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.8 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.8 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.8 SCN1B Louise Daugherty Added phenotypes Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.8 RBPJ Louise Daugherty Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
Severe Paediatric Disorders v0.8 NOTCH1 Louise Daugherty Added phenotypes Aortic valve disease 1, 109730; Adams-Oliver syndrome 5, 616028 for gene: NOTCH1
Severe Paediatric Disorders v0.8 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, recessive 1, 601001; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 for gene: KRT14
Severe Paediatric Disorders v0.8 KCND3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 19, 607346; Brugada syndrome 9, 616399 for gene: KCND3
Severe Paediatric Disorders v0.8 EOGT Louise Daugherty Added phenotypes Adams-Oliver syndrome 4, 615297 for gene: EOGT
Severe Paediatric Disorders v0.8 DOCK6 Louise Daugherty Added phenotypes Adams-Oliver syndrome 2, 614219 for gene: DOCK6
Severe Paediatric Disorders v0.8 DLL4 Louise Daugherty Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4
Severe Paediatric Disorders v0.8 CACNA1C Louise Daugherty Added phenotypes Long QT syndrome 8, 618447; Brugada syndrome 3, 611875; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.8 ARHGAP31 Louise Daugherty Added phenotypes Adams-Oliver syndrome 1, 100300 for gene: ARHGAP31
Severe Paediatric Disorders v0.8 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.8 ADAR Louise Daugherty Added phenotypes Dyschromatosis symmetrica hereditaria, 127400; Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Severe Paediatric Disorders v0.8 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.8 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.8 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.8 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.8 ADA2 Louise Daugherty Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 for gene: ADA2
Severe Paediatric Disorders v0.8 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.8 ADAM17 Louise Daugherty Mode of inheritance for gene ADAM17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.8 STRADA Louise Daugherty Mode of inheritance for gene STRADA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.8 SCN1B Louise Daugherty Mode of inheritance for gene SCN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.7 ADAM17 Louise Daugherty Source Next Generation Children Project was added to ADAM17.
Severe Paediatric Disorders v0.7 STRADA Louise Daugherty Source Next Generation Children Project was added to STRADA.
Severe Paediatric Disorders v0.7 ADAT3 Louise Daugherty Source Next Generation Children Project was added to ADAT3.
Severe Paediatric Disorders v0.7 ADAR Louise Daugherty Source Next Generation Children Project was added to ADAR.
Severe Paediatric Disorders v0.7 ADAMTSL2 Louise Daugherty Source Next Generation Children Project was added to ADAMTSL2.
Severe Paediatric Disorders v0.7 ADAMTS17 Louise Daugherty Source Next Generation Children Project was added to ADAMTS17.
Severe Paediatric Disorders v0.7 ADAMTS13 Louise Daugherty Source Next Generation Children Project was added to ADAMTS13.
Severe Paediatric Disorders v0.7 ADAMTS10 Louise Daugherty Source Next Generation Children Project was added to ADAMTS10.
Severe Paediatric Disorders v0.7 ADA2 Louise Daugherty Source Next Generation Children Project was added to ADA2.
Severe Paediatric Disorders v0.7 ADA Louise Daugherty Source Next Generation Children Project was added to ADA.
Severe Paediatric Disorders v0.5 ADAM17 Louise Daugherty Source Expert Review Amber was added to ADAM17.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 STRADA Louise Daugherty Source Expert Review Green was added to STRADA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADAT3 Louise Daugherty Source Expert Review Green was added to ADAT3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADAR Louise Daugherty Source Expert Review Green was added to ADAR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADAMTSL2 Louise Daugherty Source Expert Review Green was added to ADAMTSL2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADAMTS17 Louise Daugherty Source Expert Review Green was added to ADAMTS17.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADAMTS13 Louise Daugherty Source Expert Review Green was added to ADAMTS13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADAMTS10 Louise Daugherty Source Expert Review Green was added to ADAMTS10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADA2 Louise Daugherty Source Expert Review Green was added to ADA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ADA Louise Daugherty Source Expert Review Green was added to ADA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ADAM17 Louise Daugherty gene: ADAM17 was added
gene: ADAM17 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAM17 was set to
Severe Paediatric Disorders v0.4 STRADA Louise Daugherty gene: STRADA was added
gene: STRADA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: STRADA was set to
Severe Paediatric Disorders v0.4 ADAT3 Louise Daugherty gene: ADAT3 was added
gene: ADAT3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAT3 was set to
Severe Paediatric Disorders v0.4 ADAR Louise Daugherty gene: ADAR was added
gene: ADAR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAR was set to
Severe Paediatric Disorders v0.4 ADAMTSL2 Louise Daugherty gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTSL2 was set to
Severe Paediatric Disorders v0.4 ADAMTS17 Louise Daugherty gene: ADAMTS17 was added
gene: ADAMTS17 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTS17 was set to
Severe Paediatric Disorders v0.4 ADAMTS13 Louise Daugherty gene: ADAMTS13 was added
gene: ADAMTS13 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTS13 was set to
Severe Paediatric Disorders v0.4 ADAMTS10 Louise Daugherty gene: ADAMTS10 was added
gene: ADAMTS10 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTS10 was set to
Severe Paediatric Disorders v0.4 ADA2 Louise Daugherty gene: ADA2 was added
gene: ADA2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADA2 was set to
Severe Paediatric Disorders v0.4 ADA Louise Daugherty gene: ADA was added
gene: ADA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ADA was set to