White matter disorders and cerebral calcification - narrow panel
Gene: SLC20A2EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels
0 reviews
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
-
- COVID-19 research
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Intracerebral calcification disorders
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