Intellectual disability
Gene: SNIP1

SNIP1 (Smad nuclear interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163877
EnsemblGeneIds (GRCh37): ENSG00000163877
OMIM: 608241, Gene2Phenotype
SNIP1 is in 3 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.

Panel Version: 3.1519

Q4_21_expert_review tag has been added to this gene. Helen Brittain (Genomics England Clinical Fellow) has suggested that the rating of this gene should be considered by TEWG oversight committee, to decide whether this gene could be green, as the disease association has only been associated with a the founder variant.
Created: 28 Oct 2021, 3:15 p.m. | Last Modified: 28 Oct 2021, 3:15 p.m.

Panel Version: 3.1396

Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. 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: 12 Oct 2021, 5:14 p.m. | Last Modified: 12 Oct 2021, 5:14 p.m.

Panel Version: 3.1352

Created: 12 Oct 2021, 5:14 p.m.
Last Modified: 12 Oct 2021, 5:14 p.m.
Panel version: 3.1519

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA

Publications

22279524

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

ID link but insufficient unrelated cases to rate Green: 3 Amish patients with severe developmental delay reported in PMID:22279524 (2012) with 1097A-G, p.E366G variant in SNIP1.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; severe developmental delay

Publications

22279524

Created: 31 Oct 2017, 9:24 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:07 a.m.

Panel version: 0.306

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501
psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787

Tags

founder-effect

OMIM

608241

Clinvar variants

Variants in SNIP1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_expert_review was removed from gene: SNIP1.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SNIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Oct 2021, Gel status: 2