Intellectual disability syndromic and non-syndromic
Gene: SNIP1

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

1 review

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.
Created: 3 Dec 2021, 8:47 p.m. | Last Modified: 3 Dec 2021, 8:47 p.m.

Panel Version: 0.4343

Four Amish individuals with same homozygous variant, founder effect.
Created: 27 Feb 2020, 3:33 a.m. | Last Modified: 4 Oct 2021, 7:07 a.m.

Panel Version: 0.4175

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501

Publications

Created: 27 Feb 2020, 3:33 a.m.
Last Modified: 4 Oct 2021, 7:07 a.m.
Panel version: 0.4343

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genetic Health Queensland

Phenotypes

Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501

OMIM

608241

Clinvar variants

Variants in SNIP1

Penetrance

None

Publications

Panels with this gene