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| White matter disorders and cerebral calcification - narrow panel v4.3 | PPFIBP1 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: PPFIBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.3 | PPFIBP1 | Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.2 | PPFIBP1 |
Arina Puzriakova Source Expert Review Green was added to PPFIBP1. Source NHS GMS was added to PPFIBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v3.20 | PPFIBP1 |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1. Tag Q4_23_promote_green tag was added to gene: PPFIBP1. |
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| White matter disorders and cerebral calcification - narrow panel v3.20 | PPFIBP1 | Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v3.20 | PPFIBP1 |
Arina Puzriakova gene: PPFIBP1 was added gene: PPFIBP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: PPFIBP1. Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 35830857; 30214071 Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Penetrance for gene: PPFIBP1 were set to Complete |
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