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Intellectual disability

Gene: CAPRIN1

Red List (low evidence)

CAPRIN1 (cell cycle associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000135387
EnsemblGeneIds (GRCh37): ENSG00000135387
OMIM: 601178, Gene2Phenotype
CAPRIN1 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

MOI from Gen2Phen. Not associated with phenotype in OMIM, but as a possible G2P gene for autism or intellectual disability (PMID 23849776). At least 1 variant reported in an autism case with above average IQ, but below average (PMID 23849776) language and adaptive skills. MOI from Gen2Phen
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
AUTISM OR INTELLECTUAL DISABILITY

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • AUTISM OR INTELLECTUAL DISABILITY
OMIM
601178
Clinvar variants
Variants in CAPRIN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

5 Jan 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Added New Source

Ellen McDonagh (Genomics England Curator)

CAPRIN1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CAPRIN1 was created by ellenmcdonagh