Intracerebral calcification disorders
Gene: SLC20A2Comment on list classification: Expert review plus multiple publications.Created: 19 Dec 2016, 5:09 p.m.
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
basal ganglia calcification (Fahr syndrome)
Publications
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for SLC20A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification;Fahr syndrome
Phenotypes for SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification
This gene has been classified as Green List (High Evidence).
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
Publications for SLC20A2 were set to 26129893;27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification
SLC20A2 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
SLC20A2 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
SLC20A2 was added to Intracerebral calcification disorderspanel. Sources: Expert list
SLC20A2 was created by ellenmcdonagh