Intracerebral calcification disordersGene: JAM2
Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Created: 20 Apr 2020, 2:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Primary brain calcification
Variants in this GENE are reported as part of current diagnostic practice
gene: JAM2 was added gene: JAM2 was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM2 were set to 31851307 Phenotypes for gene: JAM2 were set to Primary brain calcification Review for gene: JAM2 was set to GREEN