Cataracts

Gene: JAM3

Green List (high evidence)

JAM3 (junctional adhesion molecule 3)
EnsemblGeneIds (GRCh38): ENSG00000166086
EnsemblGeneIds (GRCh37): ENSG00000166086
OMIM: 606871, Gene2Phenotype
JAM3 is in 8 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. Is a probable DD gene for Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, and multiple variants reported in OMIM.
Created: 29 Apr 2016, 12:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
OMIM
606871
Clinvar variants
Variants in JAM3
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730; Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for JAM3 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

JAM3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen