Activity
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6 actions
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| White matter disorders and cerebral calcification - narrow panel v7.18 | EPB41L3 | Ida Ertmanska Tag gene-checked tag was added to gene: EPB41L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.15 | EPB41L3 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: EPB41L3. Tag Q2_25_ NHS_review was removed from gene: EPB41L3. |
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| White matter disorders and cerebral calcification - narrow panel v7.15 | EPB41L3 | Achchuthan Shanmugasundram reviewed gene: EPB41L3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.14 | EPB41L3 |
Achchuthan Shanmugasundram Source NHS GMS was added to EPB41L3. Source Expert Review Green was added to EPB41L3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v7.2 | EPB41L3 | Arina Puzriakova Entity copied from Intellectual disability v9.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.2 | EPB41L3 |
Arina Puzriakova gene: EPB41L3 was added gene: EPB41L3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Q2_25_ promote_green, Q2_25_ NHS_review tags were added to gene: EPB41L3. Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPB41L3 were set to 39292993 Phenotypes for gene: EPB41L3 were set to Developmental disorder with seizures and myelination defects |
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