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  3. JAM2
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Intracerebral calcification disorders

Gene: JAM2

No list
JAM2 (junctional adhesion molecule 2)
EnsemblGeneIds (GRCh38): ENSG00000154721
EnsemblGeneIds (GRCh37): ENSG00000154721
OMIM: 606870, Gene2Phenotype
JAM2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Created: 20 Apr 2020, 2:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary brain calcification

Publications

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

Created: 20 Apr 2020, 2:49 a.m.

Panel version: 1.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Primary brain calcification
OMIM
606870
Clinvar variants
Variants in JAM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: JAM2 was added gene: JAM2 was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM2 were set to 31851307 Phenotypes for gene: JAM2 were set to Primary brain calcification Review for gene: JAM2 was set to GREEN