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Ataxia and cerebellar anomalies - narrow panel v3.30 | DPYSL5 | Eleanor Williams Tag Q3_21_rating was removed from gene: DPYSL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.30 | DPYSL5 | Eleanor Williams reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.29 | DPYSL5 |
Eleanor Williams Source Expert Review Green was added to DPYSL5. Source NHS GMS was added to DPYSL5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Ataxia and cerebellar anomalies - narrow panel v2.223 | DPYSL5 | Ivone Leong Entity copied from Intellectual disability v3.1214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.223 | DPYSL5 |
Ivone Leong gene: DPYSL5 was added gene: DPYSL5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: DPYSL5. Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DPYSL5 were set to 33894126 Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities |