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Genetic epilepsy syndromes

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

2 reviews

Sarah Leigh (Genomics England Curator)

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

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

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

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