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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 |
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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) |
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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 |