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Severe Paediatric Disorders v1.38 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from Cortical dysplasia, complex, with other brain malformations 5, 615763 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Severe Paediatric Disorders v1.10 TUBB2A Arina Puzriakova reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe Paediatric Disorders v0.12 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBB3 Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBB2B Louise Daugherty reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBB2A Louise Daugherty reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBB1 Louise Daugherty reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBB Louise Daugherty reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TUBB4A Louise Daugherty Publications for gene TUBB4A were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB3 Louise Daugherty Publications for gene TUBB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB2B Louise Daugherty Publications for gene TUBB2B were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB2A Louise Daugherty Publications for gene TUBB2A were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB1 Louise Daugherty Publications for gene TUBB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB Louise Daugherty Publications for gene TUBB were updated from to 30847515
Severe Paediatric Disorders v0.10 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.10 TUBB3 Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.10 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.10 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.10 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.10 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.9 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.9 TUBB3 Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.9 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.9 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.9 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.9 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.9 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.9 TUBB3 Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.9 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.9 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.9 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.9 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.8 TUBB4A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101 for gene: TUBB4A
Severe Paediatric Disorders v0.8 TUBB3 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 1, 614039; Fibrosis of extraocular muscles, congenital, 3A, 600638 for gene: TUBB3
Severe Paediatric Disorders v0.8 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.8 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.8 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.8 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.8 TUBB4A Louise Daugherty Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.8 TUBB3 Louise Daugherty Mode of inheritance for gene TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.8 TUBB2B Louise Daugherty Mode of inheritance for gene TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.8 TUBB2A Louise Daugherty Mode of inheritance for gene TUBB2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.8 TUBB1 Louise Daugherty Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.8 TUBB Louise Daugherty Mode of inheritance for gene TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.7 TUBB4A Louise Daugherty Source Next Generation Children Project was added to TUBB4A.
Severe Paediatric Disorders v0.7 TUBB3 Louise Daugherty Source Next Generation Children Project was added to TUBB3.
Severe Paediatric Disorders v0.7 TUBB2B Louise Daugherty Source Next Generation Children Project was added to TUBB2B.
Severe Paediatric Disorders v0.7 TUBB2A Louise Daugherty Source Next Generation Children Project was added to TUBB2A.
Severe Paediatric Disorders v0.7 TUBB1 Louise Daugherty Source Next Generation Children Project was added to TUBB1.
Severe Paediatric Disorders v0.7 TUBB Louise Daugherty Source Next Generation Children Project was added to TUBB.
Severe Paediatric Disorders v0.5 TUBB4A Louise Daugherty Source Expert Review Green was added to TUBB4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBB3 Louise Daugherty Source Expert Review Green was added to TUBB3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBB2B Louise Daugherty Source Expert Review Green was added to TUBB2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBB2A Louise Daugherty Source Expert Review Green was added to TUBB2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBB1 Louise Daugherty Source Expert Review Green was added to TUBB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBB Louise Daugherty Source Expert Review Green was added to TUBB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TUBB4A Louise Daugherty gene: TUBB4A was added
gene: TUBB4A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB4A was set to
Severe Paediatric Disorders v0.4 TUBB3 Louise Daugherty gene: TUBB3 was added
gene: TUBB3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB3 was set to
Severe Paediatric Disorders v0.4 TUBB2B Louise Daugherty gene: TUBB2B was added
gene: TUBB2B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB2B was set to
Severe Paediatric Disorders v0.4 TUBB2A Louise Daugherty gene: TUBB2A was added
gene: TUBB2A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB2A was set to
Severe Paediatric Disorders v0.4 TUBB1 Louise Daugherty gene: TUBB1 was added
gene: TUBB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB1 was set to
Severe Paediatric Disorders v0.4 TUBB Louise Daugherty gene: TUBB was added
gene: TUBB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB was set to