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  3. SERPINI1
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Regression

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 unrelated families with progressive myoclonus epilepsy
Created: 4 Feb 2020, 7:16 a.m. | Last Modified: 4 Feb 2020, 7:16 a.m.
Panel Version: 0.67

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

Publications

Created: 4 Feb 2020, 7:16 a.m.
Last Modified: 4 Feb 2020, 7:16 a.m.
Panel version: 0.67

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SERPINI1 were set to

4 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINI1 was added gene: SERPINI1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINI1 was set to Unknown