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| White matter disorders and cerebral calcification - narrow panel v2.9 | PI4KA | Sarah Leigh Tag Q3_21_rating was removed from gene: PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | PI4KA | Sarah Leigh reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | PI4KA |
Sarah Leigh Source NHS GMS was added to PI4KA. Source Expert Review Green was added to PI4KA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.198 | PI4KA | Ivone Leong Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.198 | PI4KA |
Ivone Leong gene: PI4KA was added gene: PI4KA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Q3_21_rating tags were added to gene: PI4KA. Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 25855803; 34415322; 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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