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Severe Paediatric Disorders v0.12 UBA1 Louise Daugherty reviewed gene: UBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBA1A Louise Daugherty reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 UBA1 Louise Daugherty Publications for gene UBA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBA1A Louise Daugherty Publications for gene TUBA1A were updated from to 30847515
Severe Paediatric Disorders v0.10 UBA1 Louise Daugherty Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.10 TUBA1A Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Severe Paediatric Disorders v0.9 UBA1 Louise Daugherty Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.9 TUBA1A Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Severe Paediatric Disorders v0.9 UBA1 Louise Daugherty Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.9 TUBA1A Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Severe Paediatric Disorders v0.8 UBA1 Louise Daugherty Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.8 TUBA1A Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Severe Paediatric Disorders v0.8 UBA1 Louise Daugherty Mode of inheritance for gene UBA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.8 TUBA1A Louise Daugherty Mode of inheritance for gene TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Severe Paediatric Disorders v0.7 UBA1 Louise Daugherty Source Next Generation Children Project was added to UBA1.
Severe Paediatric Disorders v0.7 TUBA1A Louise Daugherty Source Next Generation Children Project was added to TUBA1A.
Severe Paediatric Disorders v0.5 UBA1 Louise Daugherty Source Expert Review Green was added to UBA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBA1A Louise Daugherty Source Expert Review Green was added to TUBA1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 UBA1 Louise Daugherty gene: UBA1 was added
gene: UBA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: UBA1 was set to
Severe Paediatric Disorders v0.4 TUBA1A Louise Daugherty gene: TUBA1A was added
gene: TUBA1A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBA1A was set to