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Genetic 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 4 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen Epilepsy GCEP on 05/06/2022- https://search.clinicalgenome.org/CCID:006114

GoF appears to be the mechanism of disease for PME
Created: 22 Apr 2024, 3:37 a.m. | Last Modified: 22 Apr 2024, 3:37 a.m.
Panel Version: 0.2599

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
progressive myoclonus epilepsy MONDO:0020074

Publications

  • https://search.clinicalgenome.org/CCID:006114

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 unrelated families with progressive myoclonus epilepsy
Created: 4 Feb 2020, 7:18 a.m. | Last Modified: 4 Feb 2020, 7:18 a.m.
Panel Version: 0.1242

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated families with progressive myoclonus epilepsy.
Sources: Expert list
Created: 4 Feb 2020, 3:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
OMIM
602445
Clinvar variants
Variants in SERPINI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SERPINI1 was added gene: SERPINI1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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