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Severe Paediatric Disorders v0.17 LDLRAP1 Louise Daugherty Mode of inheritance for gene LDLRAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LDLR Louise Daugherty Mode of inheritance for gene LDLR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 VLDLR Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LDLRAP1 Louise Daugherty reviewed gene: LDLRAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LDLR Louise Daugherty reviewed gene: LDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 VLDLR Louise Daugherty Publications for gene VLDLR were updated from to 30847515
Severe Paediatric Disorders v0.11 LDLRAP1 Louise Daugherty Publications for gene LDLRAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LDLR Louise Daugherty Publications for gene LDLR were updated from to 30847515
Severe Paediatric Disorders v0.10 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.10 LDLRAP1 Louise Daugherty Added phenotypes Hypercholesterolemia, familial, 4, 603813 for gene: LDLRAP1
Severe Paediatric Disorders v0.10 LDLR Louise Daugherty Added phenotypes LDL cholesterol level QTL2, 143890; Hypercholesterolemia, familial, 1, 143890 for gene: LDLR
Severe Paediatric Disorders v0.9 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.9 LDLRAP1 Louise Daugherty Added phenotypes Hypercholesterolemia, familial, 4, 603813 for gene: LDLRAP1
Severe Paediatric Disorders v0.9 LDLR Louise Daugherty Added phenotypes LDL cholesterol level QTL2, 143890; Hypercholesterolemia, familial, 1, 143890 for gene: LDLR
Severe Paediatric Disorders v0.9 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.9 LDLRAP1 Louise Daugherty Added phenotypes Hypercholesterolemia, familial, 4, 603813 for gene: LDLRAP1
Severe Paediatric Disorders v0.9 LDLR Louise Daugherty Added phenotypes LDL cholesterol level QTL2, 143890; Hypercholesterolemia, familial, 1, 143890 for gene: LDLR
Severe Paediatric Disorders v0.8 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.8 LDLRAP1 Louise Daugherty Added phenotypes Hypercholesterolemia, familial, 4, 603813 for gene: LDLRAP1
Severe Paediatric Disorders v0.8 LDLR Louise Daugherty Added phenotypes Hypercholesterolemia, familial, 1, 143890; LDL cholesterol level QTL2, 143890 for gene: LDLR
Severe Paediatric Disorders v0.8 VLDLR Louise Daugherty Mode of inheritance for gene VLDLR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.7 VLDLR Louise Daugherty Source Next Generation Children Project was added to VLDLR.
Severe Paediatric Disorders v0.7 LDLRAP1 Louise Daugherty Source Next Generation Children Project was added to LDLRAP1.
Severe Paediatric Disorders v0.7 LDLR Louise Daugherty Source Next Generation Children Project was added to LDLR.
Severe Paediatric Disorders v0.5 VLDLR Louise Daugherty Source Expert Review Green was added to VLDLR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 LDLRAP1 Louise Daugherty Source Expert Review Green was added to LDLRAP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 LDLR Louise Daugherty Source Expert Review Green was added to LDLR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 VLDLR Louise Daugherty gene: VLDLR was added
gene: VLDLR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: VLDLR was set to
Severe Paediatric Disorders v0.4 LDLRAP1 Louise Daugherty gene: LDLRAP1 was added
gene: LDLRAP1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: LDLRAP1 was set to
Severe Paediatric Disorders v0.4 LDLR Louise Daugherty gene: LDLR was added
gene: LDLR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: LDLR was set to