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Severe Paediatric Disorders v0.12 TRIOBP Louise Daugherty reviewed gene: TRIOBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TRIO Louise Daugherty reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TRIOBP Louise Daugherty Publications for gene TRIOBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIO Louise Daugherty Publications for gene TRIO were updated from to 30847515
Severe Paediatric Disorders v0.10 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.10 TRIO Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
Severe Paediatric Disorders v0.10 TPI1 Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
Severe Paediatric Disorders v0.10 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.10 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.10 GATA4 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
Severe Paediatric Disorders v0.9 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.9 TRIO Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
Severe Paediatric Disorders v0.9 TPI1 Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
Severe Paediatric Disorders v0.9 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.9 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.9 GATA4 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
Severe Paediatric Disorders v0.9 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.9 TRIO Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
Severe Paediatric Disorders v0.9 TPI1 Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
Severe Paediatric Disorders v0.9 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.9 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.9 GATA4 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
Severe Paediatric Disorders v0.8 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.8 TRIO Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
Severe Paediatric Disorders v0.8 TPI1 Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
Severe Paediatric Disorders v0.8 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200; Palmoplantar keratoderma with congenital alopecia, 104100; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400 for gene: GJA1
Severe Paediatric Disorders v0.8 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.8 GATA4 Louise Daugherty Added phenotypes Ventricular septal defect 1, 614429; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941 for gene: GATA4
Severe Paediatric Disorders v0.8 TRIOBP Louise Daugherty Mode of inheritance for gene TRIOBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.8 TRIO Louise Daugherty Mode of inheritance for gene TRIO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
Severe Paediatric Disorders v0.8 TPI1 Louise Daugherty Mode of inheritance for gene TPI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
Severe Paediatric Disorders v0.7 TRIOBP Louise Daugherty Source Next Generation Children Project was added to TRIOBP.
Severe Paediatric Disorders v0.7 TRIO Louise Daugherty Source Next Generation Children Project was added to TRIO.
Severe Paediatric Disorders v0.5 TRIOBP Louise Daugherty Source Expert Review Green was added to TRIOBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TRIO Louise Daugherty Source Expert Review Green was added to TRIO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TRIOBP Louise Daugherty gene: TRIOBP was added
gene: TRIOBP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRIOBP was set to
Severe Paediatric Disorders v0.4 TRIO Louise Daugherty gene: TRIO was added
gene: TRIO was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRIO was set to