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Ataxia and cerebellar anomalies - narrow panel v3.30 | STUB1 | Eleanor Williams Tag Q3_22_MOI was removed from gene: STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.30 | STUB1 | Eleanor Williams commented on gene: STUB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.29 | STUB1 |
Eleanor Williams Source NHS GMS was added to STUB1. Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Ataxia and cerebellar anomalies - narrow panel v2.305 | STUB1 | Sarah Leigh Tag Q3_22_MOI tag was added to gene: STUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.305 | STUB1 | Sarah Leigh reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.304 | STUB1 | Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16; Spinocerebellar ataxia, autosomal recessive 16 615768 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.303 | STUB1 | Sarah Leigh Publications for gene: STUB1 were set to 24312598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | STUB1 |
Ellen McDonagh Added phenotypes Spinocerebellar ataxia, autosomal recessive 16 615768 for gene: STUB1 Publications for gene STUB1 were changed from to 24312598 |
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Ataxia and cerebellar anomalies - narrow panel v0.5 | STUB1 |
Ellen McDonagh gene: STUB1 was added gene: STUB1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16 |