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Intellectual disability

Gene: SNIP1

Red List (low evidence)

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

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA

Publications

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

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
  • severe developmental delay
OMIM
608241
Clinvar variants
Variants in SNIP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SNIP1.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SNIP1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SNIP1 was added to Intellectual disabilitypanel. Sources: Expert Review Red