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Severe Paediatric Disorders v0.17 KIF5C Louise Daugherty Mode of inheritance for gene KIF5C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF5A Louise Daugherty Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GDF5 Louise Daugherty Mode of inheritance for gene GDF5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F5 Louise Daugherty Mode of inheritance for gene F5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C12orf57 Louise Daugherty Mode of inheritance for gene C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 NDUFAF5 Louise Daugherty reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF5C Louise Daugherty reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GDF5 Louise Daugherty reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F5 Louise Daugherty reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C12orf57 Louise Daugherty reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 NDUFAF5 Louise Daugherty Publications for gene NDUFAF5 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF5C Louise Daugherty Publications for gene KIF5C were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF5A Louise Daugherty Publications for gene KIF5A were updated from to 30847515
Severe Paediatric Disorders v0.11 GDF5 Louise Daugherty Publications for gene GDF5 were updated from to 30847515
Severe Paediatric Disorders v0.11 F5 Louise Daugherty Publications for gene F5 were updated from to 30847515
Severe Paediatric Disorders v0.11 C12orf57 Louise Daugherty Publications for gene C12orf57 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF5 Louise Daugherty Mode of inheritance for gene NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 NDUFAF5 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 16, 618238 for gene: NDUFAF5
Severe Paediatric Disorders v0.10 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.10 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.10 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.10 F5 Louise Daugherty Added phenotypes Factor V deficiency, 227400 for gene: F5
Severe Paediatric Disorders v0.10 C12orf57 Louise Daugherty Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57
Severe Paediatric Disorders v0.9 NDUFAF5 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 16, 618238 for gene: NDUFAF5
Severe Paediatric Disorders v0.9 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.9 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.9 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.9 F5 Louise Daugherty Added phenotypes Factor V deficiency, 227400 for gene: F5
Severe Paediatric Disorders v0.9 C12orf57 Louise Daugherty Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57
Severe Paediatric Disorders v0.9 NDUFAF5 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 16, 618238 for gene: NDUFAF5
Severe Paediatric Disorders v0.9 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.9 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.9 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.9 F5 Louise Daugherty Added phenotypes Factor V deficiency, 227400 for gene: F5
Severe Paediatric Disorders v0.9 C12orf57 Louise Daugherty Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57
Severe Paediatric Disorders v0.8 NDUFAF5 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 16, 618238 for gene: NDUFAF5
Severe Paediatric Disorders v0.8 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.8 KIF5A Louise Daugherty Added phenotypes Myoclonus, intractable, neonatal, 617235; Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A
Severe Paediatric Disorders v0.8 GDF5 Louise Daugherty Added phenotypes Brachydactyly, type C, 113100; Du Pan syndrome, 228900; Symphalangism, proximal, 1B, 615298; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Chondrodysplasia, Grebe type, 200700; Brachydactyly, type A1, C, 615072; Brachydactyly, type A2, 112600 for gene: GDF5
Severe Paediatric Disorders v0.8 F5 Louise Daugherty Added phenotypes Factor V deficiency, 227400 for gene: F5
Severe Paediatric Disorders v0.8 C12orf57 Louise Daugherty Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57
Severe Paediatric Disorders v0.7 NDUFAF5 Louise Daugherty Source Next Generation Children Project was added to NDUFAF5.
Severe Paediatric Disorders v0.7 KIF5C Louise Daugherty Source Next Generation Children Project was added to KIF5C.
Severe Paediatric Disorders v0.7 KIF5A Louise Daugherty Source Next Generation Children Project was added to KIF5A.
Severe Paediatric Disorders v0.7 GDF5 Louise Daugherty Source Next Generation Children Project was added to GDF5.
Severe Paediatric Disorders v0.7 F5 Louise Daugherty Source Next Generation Children Project was added to F5.
Severe Paediatric Disorders v0.7 C12orf57 Louise Daugherty Source Next Generation Children Project was added to C12orf57.
Severe Paediatric Disorders v0.5 NDUFAF5 Louise Daugherty Source Expert Review Green was added to NDUFAF5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF5C Louise Daugherty Source Expert Review Green was added to KIF5C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF5A Louise Daugherty Source Expert Review Green was added to KIF5A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GDF5 Louise Daugherty Source Expert Review Green was added to GDF5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 F5 Louise Daugherty Source Expert Review Green was added to F5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C12orf57 Louise Daugherty Source Expert Review Green was added to C12orf57.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 NDUFAF5 Louise Daugherty gene: NDUFAF5 was added
gene: NDUFAF5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NDUFAF5 was set to
Severe Paediatric Disorders v0.4 KIF5C Louise Daugherty gene: KIF5C was added
gene: KIF5C was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF5C was set to
Severe Paediatric Disorders v0.4 KIF5A Louise Daugherty gene: KIF5A was added
gene: KIF5A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF5A was set to
Severe Paediatric Disorders v0.4 GDF5 Louise Daugherty gene: GDF5 was added
gene: GDF5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GDF5 was set to
Severe Paediatric Disorders v0.4 F5 Louise Daugherty gene: F5 was added
gene: F5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: F5 was set to
Severe Paediatric Disorders v0.4 C12orf57 Louise Daugherty gene: C12orf57 was added
gene: C12orf57 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C12orf57 was set to