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  2. Bilateral congenital or childhood onset cataracts
  3. NECTIN3
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Bilateral congenital or childhood onset cataracts

Gene: NECTIN3

Red List (low evidence)
NECTIN3 (nectin cell adhesion molecule 3)
EnsemblGeneIds (GRCh38): ENSG00000177707
EnsemblGeneIds (GRCh37): ENSG00000177707
OMIM: 607147, Gene2Phenotype
NECTIN3 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 4:23 p.m.
Created: 9 Dec 2016, 4:23 p.m.

Panel version: 1.0

Ellen McDonagh (Genomics England Curator)

I don't know

New gene name - NECTIN3.
Created: 7 Dec 2016, 5:42 p.m.
Comment on list classification: Not yet enough evidence to be considered a green gene.
Created: 3 Jun 2016, 8:01 a.m.
Is on the Manchester congenital cataracts gene panel. Is not associated with a disease in G2P or OMIM.
Created: 29 Apr 2016, 1:47 p.m.
Created: 7 Dec 2016, 5:42 p.m.

Panel version: 1.0

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

1 patient described with severe bilateral cataracts, has a translocation that results in decreased expression of PVRL3. PVRL3 knockout mice exhibit lens and ocular defects.
Created: 25 May 2016, 8:11 a.m.

Publications

  • Lachke et al (2012) Hum Genet 131:235-250

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 May 2016, 8:11 a.m.

Panel version: 0.124

Details

Sources
  • Expert Review Red
  • UKGTN
OMIM
607147
Clinvar variants
Variants in NECTIN3
Penetrance
Complete
Publications
  • Lachke et al (2012) Hum Genet 131:235-250
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

PVRL3 was changed to NECTIN3

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from PVRL3. Panel: Cataracts

3 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PVRL3 were set to Lachke et al (2012) Hum Genet 131:235-250

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PVRL3 was added to Cataractspanel. Sources: UKGTN