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Severe Paediatric Disorders v0.17 IL12RB1 Louise Daugherty Mode of inheritance for gene IL12RB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRB1 Louise Daugherty Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 RB1 Louise Daugherty reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL12RB1 Louise Daugherty reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRB1 Louise Daugherty reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 RB1 Louise Daugherty Publications for gene RB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL12RB1 Louise Daugherty Publications for gene IL12RB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CRB1 Louise Daugherty Publications for gene CRB1 were updated from to 30847515
Severe Paediatric Disorders v0.10 RB1 Louise Daugherty Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.10 IL12RB1 Louise Daugherty Added phenotypes Immunodeficiency 30, 614891 for gene: IL12RB1
Severe Paediatric Disorders v0.10 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.9 RB1 Louise Daugherty Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.9 IL12RB1 Louise Daugherty Added phenotypes Immunodeficiency 30, 614891 for gene: IL12RB1
Severe Paediatric Disorders v0.9 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.9 RB1 Louise Daugherty Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.9 IL12RB1 Louise Daugherty Added phenotypes Immunodeficiency 30, 614891 for gene: IL12RB1
Severe Paediatric Disorders v0.9 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.8 RB1 Louise Daugherty Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.8 IL12RB1 Louise Daugherty Added phenotypes Immunodeficiency 30, 614891 for gene: IL12RB1
Severe Paediatric Disorders v0.8 CRB1 Louise Daugherty Added phenotypes Retinitis pigmentosa-12, 600105; Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870 for gene: CRB1
Severe Paediatric Disorders v0.8 RB1 Louise Daugherty Mode of inheritance for gene RB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.7 RB1 Louise Daugherty Source Next Generation Children Project was added to RB1.
Severe Paediatric Disorders v0.7 IL12RB1 Louise Daugherty Source Next Generation Children Project was added to IL12RB1.
Severe Paediatric Disorders v0.7 CRB1 Louise Daugherty Source Next Generation Children Project was added to CRB1.
Severe Paediatric Disorders v0.5 RB1 Louise Daugherty Source Expert Review Amber was added to RB1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 IL12RB1 Louise Daugherty Source Expert Review Green was added to IL12RB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CRB1 Louise Daugherty Source Expert Review Green was added to CRB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RB1 Louise Daugherty gene: RB1 was added
gene: RB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RB1 was set to
Severe Paediatric Disorders v0.4 IL12RB1 Louise Daugherty gene: IL12RB1 was added
gene: IL12RB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IL12RB1 was set to
Severe Paediatric Disorders v0.4 CRB1 Louise Daugherty gene: CRB1 was added
gene: CRB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CRB1 was set to