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| White matter disorders and cerebral calcification - narrow panel v4.3 | ESAM | Arina Puzriakova Tag Q3_23_promote_green was removed from gene: ESAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.3 | ESAM | Arina Puzriakova reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.2 | ESAM |
Arina Puzriakova Source Expert Review Green was added to ESAM. Source NHS GMS was added to ESAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v3.17 | ESAM | Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v3.17 | ESAM | Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v3.17 | ESAM |
Achchuthan Shanmugasundram gene: ESAM was added gene: ESAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature,Expert Review Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM. Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 36996813 Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 |
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