SLC20A2

solute carrier family 20 member 2
OMIM: 158378, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SLC20A2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600

Green SLC20A2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600

Green SLC20A2 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
  • ?hereditary multiple exostoses

Red SLC20A2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600

Red SLC20A2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM#213600

Red SLC20A2 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
  • Paroxysmal kinesigenic dyskinesia

Green SLC20A2 in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal ganglia calcification, idiopathic, 1 213600
  • Dystonia