Bilateral congenital or childhood onset cataracts
Gene: JAM3EnsemblGeneIds (GRCh38): ENSG00000166086
EnsemblGeneIds (GRCh37): ENSG00000166086
OMIM: 606871, Gene2Phenotype
JAM3 is in 8 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. Is a probable DD gene for Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, and multiple variants reported in OMIM.Created: 29 Apr 2016, 12:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
- Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
- OMIM
- 606871
- Clinvar variants
- Variants in JAM3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730; Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for JAM3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()JAM3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen