Stroke
Gene: JAM3EnsemblGeneIds (GRCh38): ENSG00000166086
EnsemblGeneIds (GRCh37): ENSG00000166086
OMIM: 606871, Gene2Phenotype
JAM3 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert ReviewCreated: 23 Jan 2024, 5:58 a.m.
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
- Expert Review
- 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
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jam3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jam3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: JAM3 was added gene: JAM3 was added to Stroke. Sources: Expert Review Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM3 were set to 23255084; 21109224 Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Review for gene: JAM3 was set to GREEN