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Severe Paediatric Disorders v1.112 H19 Sarah Leigh Phenotypes for gene: H19 were changed from Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 to Silver-Russell syndrome, OMIM:180860; Wilms tumor 2, OMIM:194071; Beckwith-Wiedemann syndrome, OMIM:130650
Severe Paediatric Disorders v0.17 H19 Louise Daugherty Mode of inheritance for gene H19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 PCDH19 Louise Daugherty reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 H19 Louise Daugherty reviewed gene: H19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Publications for gene PCDH19 were updated from to 30847515
Severe Paediatric Disorders v0.11 H19 Louise Daugherty Publications for gene H19 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Mode of inheritance for gene PCDH19 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 v0.10 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.10 H19 Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
Severe Paediatric Disorders v0.9 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.9 H19 Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
Severe Paediatric Disorders v0.9 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.9 H19 Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
Severe Paediatric Disorders v0.8 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.8 H19 Louise Daugherty Added phenotypes Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650; Silver-Russell syndrome, 180860 for gene: H19
Severe Paediatric Disorders v0.7 PCDH19 Louise Daugherty Source Next Generation Children Project was added to PCDH19.
Severe Paediatric Disorders v0.7 H19 Louise Daugherty Source Next Generation Children Project was added to H19.
Severe Paediatric Disorders v0.5 PCDH19 Louise Daugherty Source Expert Review Green was added to PCDH19.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 H19 Louise Daugherty Source Expert Review Green was added to H19.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PCDH19 Louise Daugherty gene: PCDH19 was added
gene: PCDH19 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PCDH19 was set to
Severe Paediatric Disorders v0.4 H19 Louise Daugherty gene: H19 was added
gene: H19 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: H19 was set to