Activity

Filter

Cancel
Date Panel Item Activity
40 actions
Severe Paediatric Disorders v0.17 FLVCR2 Louise Daugherty Mode of inheritance for gene FLVCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHCR24 Louise Daugherty Mode of inheritance for gene DHCR24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CR2 Louise Daugherty Mode of inheritance for gene CR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 PYCR2 Louise Daugherty reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHCR24 Louise Daugherty reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CR2 Louise Daugherty reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PYCR2 Louise Daugherty Publications for gene PYCR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 FLVCR2 Louise Daugherty Publications for gene FLVCR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 DHCR24 Louise Daugherty Publications for gene DHCR24 were updated from to 30847515
Severe Paediatric Disorders v0.11 CR2 Louise Daugherty Publications for gene CR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PYCR2 Louise Daugherty Mode of inheritance for gene PYCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PYCR2 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 10, 616420 for gene: PYCR2
Severe Paediatric Disorders v0.10 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.10 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.10 CR2 Louise Daugherty Added phenotypes Immunodeficiency, common variable, 7, 614699 for gene: CR2
Severe Paediatric Disorders v0.9 PYCR2 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 10, 616420 for gene: PYCR2
Severe Paediatric Disorders v0.9 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 CR2 Louise Daugherty Added phenotypes Immunodeficiency, common variable, 7, 614699 for gene: CR2
Severe Paediatric Disorders v0.9 PYCR2 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 10, 616420 for gene: PYCR2
Severe Paediatric Disorders v0.9 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 CR2 Louise Daugherty Added phenotypes Immunodeficiency, common variable, 7, 614699 for gene: CR2
Severe Paediatric Disorders v0.8 PYCR2 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 10, 616420 for gene: PYCR2
Severe Paediatric Disorders v0.8 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.8 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.8 CR2 Louise Daugherty Added phenotypes Immunodeficiency, common variable, 7, 614699 for gene: CR2
Severe Paediatric Disorders v0.7 PYCR2 Louise Daugherty Source Next Generation Children Project was added to PYCR2.
Severe Paediatric Disorders v0.7 FLVCR2 Louise Daugherty Source Next Generation Children Project was added to FLVCR2.
Severe Paediatric Disorders v0.7 DHCR24 Louise Daugherty Source Next Generation Children Project was added to DHCR24.
Severe Paediatric Disorders v0.7 CR2 Louise Daugherty Source Next Generation Children Project was added to CR2.
Severe Paediatric Disorders v0.5 PYCR2 Louise Daugherty Source Expert Review Green was added to PYCR2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FLVCR2 Louise Daugherty Source Expert Review Green was added to FLVCR2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 DHCR24 Louise Daugherty Source Expert Review Green was added to DHCR24.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CR2 Louise Daugherty Source Expert Review Green was added to CR2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PYCR2 Louise Daugherty gene: PYCR2 was added
gene: PYCR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PYCR2 was set to
Severe Paediatric Disorders v0.4 FLVCR2 Louise Daugherty gene: FLVCR2 was added
gene: FLVCR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FLVCR2 was set to
Severe Paediatric Disorders v0.4 DHCR24 Louise Daugherty gene: DHCR24 was added
gene: DHCR24 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DHCR24 was set to
Severe Paediatric Disorders v0.4 CR2 Louise Daugherty gene: CR2 was added
gene: CR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CR2 was set to