Intracerebral calcification disorders
Gene: SLC20A2EnsemblGeneIds (GRCh38): ENSG00000168575
EnsemblGeneIds (GRCh37): ENSG00000168575
OMIM: 158378, Gene2Phenotype
SLC20A2 is in 10 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Expert review plus multiple publications.Created: 19 Dec 2016, 5:09 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Several family reports on OMIM, however with some reports include affected members were found not to carry the reported pathogenic variant or there were unaffected members with the variant. Two recent publications reporting deletions in SLC20A2 as associated with brain calcification. PMID:26129893 reports identifying previously reported in 18 patients from 7 families (including 6 cases with sporadic presentation). They excluded variants with no effect when functional studies were available.Created: 7 Dec 2016, 11:55 a.m.
Yanick Crow (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
basal ganglia calcification (Fahr syndrome)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 1, 213600
- Familial Idiopathic Basal Ganglia Calcification
- Fahr syndrome
- Tags
- OMIM
- 158378
- Clinvar variants
- Variants in SLC20A2
- Penetrance
- Complete
- Publications
-
- 26129893
- 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification
- 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Intracerebral calcification disorders
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC20A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification;Fahr syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC20A2 were set to 26129893; 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification; 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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC20A2 were set to 26129893;27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification
Added New Source
Olivia Niblock (Genomics England Curator)SLC20A2 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Olivia Niblock (Genomics England Curator)SLC20A2 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)SLC20A2 was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SLC20A2 was created by ellenmcdonagh