1. Panels
  2. Progressive Myoclonic Epilepsy
  3. SERPINI1
STRs in panel
Prev Next
Regions in panel
Prev Next

Progressive Myoclonic 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

1 review

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

Created: 4 Feb 2020, 3:59 a.m.

Panel version: Imported from Genetic Epilepsy panel version 0.563

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Encephalopathy, familial, with neuroserpin inclusion bodies
OMIM
602445
Clinvar variants
Variants in SERPINI1
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SERPINI1 was added gene: SERPINI1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies