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Adult onset neurodegenerative disorder v8.18 JAM2 Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated individuals reported in literature with brain calcifications and biallelic JAM2 variants. Common features 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.; to: Comment on list classification: There are more than 3 unrelated individuals reported in literature with brain calcifications and biallelic JAM2 variants. 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.
Adult onset neurodegenerative disorder v8.18 JAM2 Ida Ertmanska Phenotypes for gene: JAM2 were changed from Basal ganglia calcification 7, 618317; Primary familial brain calcification; Fahr syndrome to Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824; basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938; Fahr syndrome
Adult onset neurodegenerative disorder v8.17 JAM2 Ida Ertmanska Classified gene: JAM2 as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v8.17 JAM2 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with brain calcifications and biallelic JAM2 variants. Common features 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.
Adult onset neurodegenerative disorder v8.17 JAM2 Ida Ertmanska Gene: jam2 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v8.16 JAM2 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: JAM2.
Adult onset neurodegenerative disorder v8.16 JAM2 Ida Ertmanska edited their review of gene: JAM2: Changed rating: GREEN; Changed publications to: 31851307, 32142645; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v8.16 JAM2 Ida Ertmanska changed review comment from: PMID: 31851307 Cen et al., 2020; to: 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).
Adult onset neurodegenerative disorder v8.16 JAM2 Ida Ertmanska reviewed gene: JAM2: Rating: ; Mode of pathogenicity: None; Publications: 31851307, 37446066; Phenotypes: Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824; Mode of inheritance: None
Adult onset neurodegenerative disorder v8.11 JAM2 Lucy Jackson edited their review of gene: JAM2: Changed phenotypes to: Basal ganglia calcification 8, 618824, Primary familial brain calcification, Fahr syndrome
Adult onset neurodegenerative disorder v8.11 JAM2 Lucy Jackson gene: JAM2 was added
gene: JAM2 was added to Adult onset neurodegenerative disorder. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307; 37446066
Phenotypes for gene: JAM2 were set to Basal ganglia calcification 7, 618317; Primary familial brain calcification; Fahr syndrome
Review for gene: JAM2 was set to GREEN
Added comment: Sources: Literature