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| Early onset or syndromic epilepsy v2.491 | SERPINI1 | Sarah Leigh Tag for-review was removed from gene: SERPINI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.491 | SERPINI1 | Sarah Leigh commented on gene: SERPINI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.490 | SERPINI1 |
Sarah Leigh Source Expert Review Green was added to SERPINI1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.195 | SERPINI1 | Arina Puzriakova Classified gene: SERPINI1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.195 | SERPINI1 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.195 | SERPINI1 | Arina Puzriakova Gene: serpini1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.194 | SERPINI1 | Arina Puzriakova Tag for-review tag was added to gene: SERPINI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.28 | SERPINI1 | Sarah Leigh Classified gene: SERPINI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.28 | SERPINI1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.28 | SERPINI1 | Sarah Leigh Gene: serpini1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.27 | SERPINI1 | Sarah Leigh Phenotypes for gene: SERPINI1 were changed from Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 to Encephalopathy, familial, with neuroserpin inclusion bodies 604218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | SERPINI1 |
Zornitza Stark gene: SERPINI1 was added gene: SERPINI1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SERPINI1 were set to 28631894; 25401298; 12103288 Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Review for gene: SERPINI1 was set to GREEN gene: SERPINI1 was marked as current diagnostic Added comment: >3 unrelated families with progressive myoclonus epilepsy Sources: Expert list |
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