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Prepair 1000+

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

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. Five unrelated families reported (PMID: 34292449 - Italian individual, most recent reported in 2021)
Mice studies present.
Created: 8 Nov 2024, 11:09 a.m. | Last Modified: 8 Nov 2024, 11:09 a.m.
Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
OMIM
606871
Clinvar variants
Variants in JAM3
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAM3 was added gene: JAM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)