Brain Calcification
Gene: JAM2EnsemblGeneIds (GRCh38): ENSG00000154721
EnsemblGeneIds (GRCh37): ENSG00000154721
OMIM: 606870, Gene2Phenotype
JAM2 is in 2 panels
2 reviews
Yetong Chen (University of Melbourne)
Additional cases are reported by a new publication.
PMID 32142645 reports 7 patients from 4 unrelated families (3 consanguineous families and 1 non-consanguineous family) who had bi-allelic variants and developed brain calcification.Created: 20 Apr 2023, 3:21 a.m. | Last Modified: 20 Apr 2023, 3:21 a.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 8, autosomal recessive, MIM# 618824
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: LiteratureCreated: 14 Jan 2020, 8:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary brain calcification
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Primary brain calcification
- OMIM
- 606870
- Clinvar variants
- Variants in JAM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jam2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jam2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: JAM2 was added gene: JAM2 was added to Brain calcification_VCGS. Sources: Literature Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM2 were set to 31851307 Phenotypes for gene: JAM2 were set to Primary brain calcification