Early onset or syndromic epilepsy
Gene: SERPINI1Comment 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).Created: 20 Oct 2020, 3:55 p.m. | Last Modified: 20 Oct 2020, 3:55 p.m.
Panel Version: 2.195
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
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.Created: 31 Mar 2020, 1:24 p.m. | Last Modified: 31 Mar 2020, 1:24 p.m.
Panel Version: 2.28
>3 unrelated families with progressive myoclonus epilepsy
Sources: Expert listCreated: 4 Feb 2020, 7:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: SERPINI1.
Source Expert Review Green was added to SERPINI1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: serpini1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SERPINI1.
Gene: serpini1 has been classified as Green List (High Evidence).
Phenotypes for gene: SERPINI1 were changed from Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 to Encephalopathy, familial, with neuroserpin inclusion bodies 604218
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