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Intellectual disability

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

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

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

12 Mar 2018, Gel status: 3

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.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

JAM3 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene JAM3 was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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