Genomics England
GMS Panels
Panels
Genes and Entities

JAM3

junctional adhesion molecule 3
OMIM: 606871
PanelMode of inheritanceDetails
3 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730, Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730