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| Intracerebral calcification disorders v1.37 | JAM2 | Ida Ertmanska reviewed gene: JAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31851307, 32142645; Phenotypes: Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.37 | JAM2 | Ida Ertmanska Classified gene: JAM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.37 | JAM2 | Ida Ertmanska Gene: jam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.18 | JAM2 | Zornitza Stark edited their review of gene: JAM2: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.18 | JAM2 |
Zornitza Stark 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 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 |
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