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Severe Paediatric Disorders v1.129 STUB1 Sarah Leigh commented on gene: STUB1
Severe Paediatric Disorders v1.129 STUB1 Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526
Severe Paediatric Disorders v1.128 STUB1 Sarah Leigh Publications for gene: STUB1 were set to 30847515
Severe Paediatric Disorders v0.12 STUB1 Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 STUB1 Louise Daugherty Publications for gene STUB1 were updated from to 30847515
Severe Paediatric Disorders v0.10 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.9 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.9 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.8 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.8 STUB1 Louise Daugherty Mode of inheritance for gene STUB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.7 STUB1 Louise Daugherty Source Next Generation Children Project was added to STUB1.
Severe Paediatric Disorders v0.5 STUB1 Louise Daugherty Source Expert Review Green was added to STUB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 STUB1 Louise Daugherty gene: STUB1 was added
gene: STUB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: STUB1 was set to