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| Hereditary ataxia with onset in adulthood v8.28 | JAM2 | Ida Ertmanska Classified gene: JAM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.28 | JAM2 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with adult-onset brain calcification and biallelic JAM2 variants, presenting with a cerebellar syndrome (ataxia, dysarthria). Hence, JAM2 should be promoted to Green for Hereditary ataxia with onset in adulthood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.28 | JAM2 | Ida Ertmanska Gene: jam2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.27 | JAM2 |
Ida Ertmanska gene: JAM2 was added gene: JAM2 was added to Hereditary ataxia with onset in adulthood. 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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