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DDG2P

Gene: JAM3

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730
OMIM
606871
Clinvar variants
Variants in JAM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: JAM3 was added gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM3 were set to 21109224; 23255084 Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730