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Intellectual disability

Gene: NECTIN1

Red List (low evidence)

NECTIN1 (nectin cell adhesion molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000110400
EnsemblGeneIds (GRCh37): ENSG00000110400
OMIM: 600644, Gene2Phenotype
NECTIN1 is in 5 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME

Louise Daugherty (Genomics England Curator)

added new-gene-name tag. New approved gene name NECTIN1
Created: 13 Jun 2017, 11:46 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060
  • CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
OMIM
600644
Clinvar variants
Variants in NECTIN1
Penetrance
Complete
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 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

PVRL1 was changed to NECTIN1

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from PVRL1. Panel: Intellectual disability

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PVRL1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PVRL1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen