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  3. SNIP1
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Genetic Epilepsy

Gene: SNIP1

Amber List (moderate evidence)
SNIP1 (Smad nuclear interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163877
EnsemblGeneIds (GRCh37): ENSG00000163877
OMIM: 608241, Gene2Phenotype
SNIP1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.
Sources: Expert Review
Created: 3 Dec 2021, 8:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

Publications

Created: 3 Dec 2021, 8:46 p.m.

Panel version: 0.1400

Teresa Zhao (Victorian Clinical Genetics Services)

Red List (low evidence)

Same homozygous SNIP1 variant (p.E366G, PMID: 22279524) identified in another large Amish family, founder effect.
Created: 4 Oct 2021, 4:34 a.m. | Last Modified: 4 Oct 2021, 4:34 a.m.
Panel Version: 0.9297

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

Publications

Created: 4 Oct 2021, 4:34 a.m.
Last Modified: 4 Oct 2021, 4:34 a.m.
Panel version: Imported from Mendeliome panel version 0.9297

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Tags
founder
OMIM
608241
Clinvar variants
Variants in SNIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snip1 has been classified as Amber List (Moderate Evidence).

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snip1 has been classified as Amber List (Moderate Evidence).

3 Dec 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNIP1 was added gene: SNIP1 was added to Genetic Epilepsy. Sources: Expert Review founder tags were added to gene: SNIP1. Mode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNIP1 were set to 22279524; 34570759 Phenotypes for gene: SNIP1 were set to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Review for gene: SNIP1 was set to AMBER