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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 |