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Intellectual disability

Gene: CTTNBP2

Red List (low evidence)

CTTNBP2 (cortactin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000077063
EnsemblGeneIds (GRCh37): ENSG00000077063
OMIM: 609772, Gene2Phenotype
CTTNBP2 is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was identified in the susceptibility loci for autism, though a case-control study found no significant difference in variant frequency between cases and controls for an identfied missense variant. It is a candidate gene for ID in PMID: 26350204.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
OMIM
609772
Clinvar variants
Variants in CTTNBP2
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.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene CTTNBP2 was set to ['26350204', '11707066']

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)

CTTNBP2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CTTNBP2 was created by ellenmcdonagh