White matter disorders and cerebral calcification - narrow panel
Gene: SLC20A2EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fahr syndrome
- Basal ganglia calcification, idiopathic, 1, 213600
- Familial Idiopathic Basal Ganglia Calcification
- OMIM
- 158378
- Clinvar variants
- Variants in SLC20A2
- Penetrance
- None
- Publications
-
- 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification
- 26129893
- 27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes
- Panels with this gene
-
- Structural basal ganglia disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intracerebral calcification disorders
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- COVID-19 research
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC20A2 was added gene: SLC20A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC20A2 were set to 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification; 26129893; 27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes Phenotypes for gene: SLC20A2 were set to Fahr syndrome; Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification