Inherited white matter disorders

Gene: JAM3

Red List (low evidence)

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

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This is a catastrophic condition typically presenting with multifocal brain haemorrhage rather than white matter disease.
Created: 24 Jul 2018, 2:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
OMIM
606871
Clinvar variants
Variants in JAM3
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

JAM3 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

JAM3 was created by ellenmcdonagh