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Severe Paediatric Disorders v0.12 SPTBN4 Louise Daugherty reviewed gene: SPTBN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SPTB Louise Daugherty reviewed gene: SPTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SPTBN4 Louise Daugherty Publications for gene SPTBN4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTBN2 Louise Daugherty Publications for gene SPTBN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTB Louise Daugherty Publications for gene SPTB were updated from to 30847515
Severe Paediatric Disorders v0.10 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.10 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.10 SPTB Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.9 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.9 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.9 SPTB Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.9 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.9 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.9 SPTB Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.8 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.8 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.8 SPTB Louise Daugherty Added phenotypes Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Spherocytosis, type 2, 616649; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.8 SPTBN4 Louise Daugherty Mode of inheritance for gene SPTBN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.8 SPTBN2 Louise Daugherty Mode of inheritance for gene SPTBN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.8 SPTB Louise Daugherty Mode of inheritance for gene SPTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.7 SPTBN4 Louise Daugherty Source Next Generation Children Project was added to SPTBN4.
Severe Paediatric Disorders v0.7 SPTBN2 Louise Daugherty Source Next Generation Children Project was added to SPTBN2.
Severe Paediatric Disorders v0.7 SPTB Louise Daugherty Source Next Generation Children Project was added to SPTB.
Severe Paediatric Disorders v0.5 SPTBN4 Louise Daugherty Source Expert Review Green was added to SPTBN4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SPTBN2 Louise Daugherty Source Expert Review Green was added to SPTBN2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SPTB Louise Daugherty Source Expert Review Green was added to SPTB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SPTBN4 Louise Daugherty gene: SPTBN4 was added
gene: SPTBN4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SPTBN4 was set to
Severe Paediatric Disorders v0.4 SPTBN2 Louise Daugherty gene: SPTBN2 was added
gene: SPTBN2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SPTBN2 was set to
Severe Paediatric Disorders v0.4 SPTB Louise Daugherty gene: SPTB was added
gene: SPTB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SPTB was set to