SLC18A2

solute carrier family 18 member A2
OMIM: 193001, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SLC18A2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinsonism-dystonia, infantile, 2 , MIM# 618049
  • Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism

Green SLC18A2 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049

Green SLC18A2 in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049

Green SLC18A2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049

Green SLC18A2 in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049

Green SLC18A2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049
Tags
  • treatable
  • neurological