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Genetic epilepsy syndromes

Gene: SNIP1

Amber List (moderate evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. One variant identified in 3 Amish cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism 614501, supportive functional studies were presented (pmid 22279524)
Created: 21 Jun 2018, 11:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism 614501

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism 614501
OMIM
608241
Clinvar variants
Variants in SNIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SNIP1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SNIP1.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

21 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SNIP1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

21 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SNIP1 was created by Sarah Leigh