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| Early onset or syndromic epilepsy v3.30 | PRPF8 | Arina Puzriakova Tag Q2_22_rating was removed from gene: PRPF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | PRPF8 | Arina Puzriakova reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | PRPF8 |
Arina Puzriakova Source Expert Review Green was added to PRPF8. Source NHS GMS was added to PRPF8. Mode of inheritance for gene PRPF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.530 | PRPF8 | Sarah Leigh Entity copied from Intellectual disability v3.1587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.530 | PRPF8 |
Sarah Leigh gene: PRPF8 was added gene: PRPF8 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature Q2_22_rating tags were added to gene: PRPF8. Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRPF8 were set to 20811066; 23714367; 30420816; 31696658; 35543142 Phenotypes for gene: PRPF8 were set to PRPF8-related developmental disorder (monoallelic); Retinitis pigmentosa 13, OMIM:600059 Penetrance for gene: PRPF8 were set to unknown |
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