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  3. SERPINI1
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Early onset or syndromic epilepsy

Gene: SERPINI1

Green List (high evidence)
SERPINI1 (serpin family I member 1)
EnsemblGeneIds (GRCh38): ENSG00000163536
EnsemblGeneIds (GRCh37): ENSG00000163536
OMIM: 602445, Gene2Phenotype
SERPINI1 is in 1 panel

3 reviews

Arina Puzriakova (Genomics England Curator)

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).
Created: 20 Oct 2020, 3:55 p.m. | Last Modified: 20 Oct 2020, 3:55 p.m.
Panel Version: 2.195
Created: 20 Oct 2020, 3:55 p.m.
Last Modified: 20 Oct 2020, 3:55 p.m.
Panel version: 2.195

Sarah Leigh (Genomics England Curator)

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
Created: 31 Mar 2020, 1:24 p.m.
Last Modified: 31 Mar 2020, 1:24 p.m.
Panel version: 2.491

Zornitza Stark (Australian Genomics)

Green List (high evidence)

>3 unrelated families with progressive myoclonus epilepsy
Sources: Expert list
Created: 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

Created: 4 Feb 2020, 7:14 a.m.

Panel version: 2.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Encephalopathy, familial, with neuroserpin inclusion bodies 604218
OMIM
602445
Clinvar variants
Variants in SERPINI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: SERPINI1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SERPINI1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: serpini1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SERPINI1.

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: serpini1 has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SERPINI1 were changed from Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 to Encephalopathy, familial, with neuroserpin inclusion bodies 604218

4 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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