| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.77 | JAM2 | Bryony Thompson Marked gene: JAM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.77 | JAM2 | Bryony Thompson Gene: jam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.77 | JAM2 | Bryony Thompson Classified gene: JAM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.77 | JAM2 | Bryony Thompson Gene: jam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.76 | JAM2 |
Bryony Thompson gene: JAM2 was added gene: JAM2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM2 were set to 32142645 Phenotypes for gene: JAM2 were set to basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 Review for gene: JAM2 was set to GREEN Added comment: PMID 32142645 reports 7 individuals from 4 families with biallelic loss-of-function JAM2 variants presenting with primary familial brain calcification and cerebellar ataxia. The cerebellar ataxia aligns JAM2 with the Ataxia panel, which captures disorders where ataxia is a prominent feature. Sources: Literature |
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