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Ataxia and cerebellar anomalies - narrow panel v3.30 | PI4KA | Eleanor Williams Tag Q3_21_rating was removed from gene: PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.30 | PI4KA | Eleanor Williams reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.29 | PI4KA |
Eleanor Williams Source Expert Review Green was added to PI4KA. Source NHS GMS was added to PI4KA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Ataxia and cerebellar anomalies - narrow panel v2.233 | PI4KA | Ivone Leong Tag Q3_21_rating tag was added to gene: PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.233 | PI4KA | Ivone Leong Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.232 | PI4KA | Ivone Leong Publications for gene: PI4KA were set to 25855803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.231 | PI4KA | Ivone Leong Classified gene: PI4KA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.231 | PI4KA | Ivone Leong Gene: pi4ka has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.230 | PI4KA | Ivone Leong reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25855803, 34415322, 34415310; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | PI4KA |
Ellen McDonagh gene: PI4KA was added gene: PI4KA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 25855803 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531 |