Cataract
Gene: JAM3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy. Four unrelated families reported.
Created: 10 Nov 2020, 9:26 a.m. | Last Modified: 10 Nov 2020, 9:26 a.m.

Panel Version: 0.240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 Nov 2020, 9:26 a.m.
Last Modified: 10 Nov 2020, 9:26 a.m.
Panel version: 0.240

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730

OMIM

606871

Clinvar variants

Variants in JAM3

Penetrance

None

Publications

Panels with this gene