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Severe Paediatric Disorders v0.17 GRN Louise Daugherty Mode of inheritance for gene GRN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGRN Louise Daugherty Mode of inheritance for gene AGRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGRN Louise Daugherty reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GRN Louise Daugherty Publications for gene GRN were updated from to 30847515
Severe Paediatric Disorders v0.11 AGRN Louise Daugherty Publications for gene AGRN were updated from to 30847515
Severe Paediatric Disorders v0.10 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.10 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.9 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.9 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.9 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.9 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.8 GRN Louise Daugherty Added phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485; Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706 for gene: GRN
Severe Paediatric Disorders v0.8 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.7 GRN Louise Daugherty Source Next Generation Children Project was added to GRN.
Severe Paediatric Disorders v0.7 AGRN Louise Daugherty Source Next Generation Children Project was added to AGRN.
Severe Paediatric Disorders v0.5 GRN Louise Daugherty Source Expert Review Green was added to GRN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 AGRN Louise Daugherty Source Expert Review Green was added to AGRN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GRN Louise Daugherty gene: GRN was added
gene: GRN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GRN was set to
Severe Paediatric Disorders v0.4 AGRN Louise Daugherty gene: AGRN was added
gene: AGRN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: AGRN was set to