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Brain Calcification v1.51 JAM2 Yetong Chen reviewed gene: JAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32142645; Phenotypes: Basal ganglia calcification, idiopathic, 8, autosomal recessive, MIM# 618824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.14 JAM2 Zornitza Stark edited their review of gene: JAM2: Changed rating: GREEN
Brain Calcification v0.4 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.4 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.3 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Brain calcification_VCGS. 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
Added comment: 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.
Sources: Literature