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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 v2.185 ARG1 Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininemia, OMIM:207800
Adult onset neurodegenerative disorder v1.106 ARG1 Louise Daugherty edited their review of gene: ARG1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.105 ARG1 Louise Daugherty Source Expert Review Red was added to ARG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 ARG1 Louise Daugherty Source Wessex and West Midlands GLH was added to ARG1.
Adult onset neurodegenerative disorder v1.99 ARG1 Tracy Lester reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.74 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.72 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.67 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Adult onset neurodegenerative disorder v1.11 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARG1 James Polke reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 ARG1 Louise Daugherty Source NHS GMS was added to ARG1.
Adult onset neurodegenerative disorder v1.8 ARG1 Louise Daugherty Source London North GLH was added to ARG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v0.87 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.86 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.85 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.84 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Classified gene: ARG1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Gene: arg1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.27 ARG1 Rebecca Foulger commented on gene: ARG1
Adult onset neurodegenerative disorder v0.7 ARG1 Rebecca Foulger Classified gene: ARG1 as No list
Adult onset neurodegenerative disorder v0.7 ARG1 Rebecca Foulger Gene: arg1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.6 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 23859858
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia