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| White matter disorders and cerebral calcification - narrow panel v7.17 | JAM2 | Ida Ertmanska Classified gene: JAM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.17 | JAM2 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic JAM2 variants and cerebral calcification, with onset in childhood or early adulthood. Common symptoms included parkinsonism, cognitive decline, cerebellar syndrome, and dysarthria. Knockout mouse model recapitulated the human phenotype. Based on available evidence, JAM2 should be updated to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.17 | JAM2 | Ida Ertmanska Gene: jam2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.16 | JAM2 |
Ida Ertmanska gene: JAM2 was added gene: JAM2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Q1_26_promote_green tags were added to gene: JAM2. Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM2 were set to 31851307; 32142645 Phenotypes for gene: JAM2 were set to Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824 Review for gene: JAM2 was set to GREEN Added comment: PMID: 31851307 Cen et al., 2020 Reported 3 unrelated families with primary familial brain calcification. Probands harboured biallelic JAM2 variants: homozygous c.140delT, p.L48Ter; homozygous c.1A>G, p.M1? and compound heterozygous mutations [c.504G>C, p.W168C & c.(67+1_68-1)_(394+1_395-1), p.Y23_V131delinsL]. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and asymptomatic at the time of report (1 patient at age 37 years); disease onset ages: 20-38 years. 4/4 patients presented with severe calcifications in the cortex in addition to extensive calcifications in multiple brain areas. PMID: 32142645 Schottlaender et al., 2023 Report of 7 individuals from 4 families with primary familial brain calcification. Detected biallelic JAM2 variants: homozygous c.685C>T, p.Arg229Ter (2 families); comp het c.395−1dupG, c.323G>A & IVS4-1dupG, p.Arg108His; homozygous c.177_180delCAGA, p.Arg60Ter. Age of onset: childhood (3/7), teenage (2/7), 20s-30s (2/7). Phenotype: cerebellar syndrome (6/7), Parkinsonism (5/7), dystonia (3/7), cognitive decline (5/6 assessed), brain calcification (7/7). Functional evidence: JAM2 variants lead to reduction of JAM2 mRNA expression and absence of JAM2 protein in patient’s fibroblasts; human phenotype of brain calcification is replicated in the jam2 complete knockout mouse (jam2 KO). JAM2 is associated with Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824 (OMIM accesed 16th Mar 2026). Sources: Literature |
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