SLC1A3

solute carrier family 1 member 3
OMIM: 600111, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC1A3 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemiplegic migraine

Green SLC1A3 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6 MIM#612656

Green SLC1A3 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6, MIM# 612656

Green SLC1A3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Episodic ataxia, type 6, MIM# 612656

Red SLC1A3 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
  • Episodic ataxia, type 6, MIM# 612656

Red SLC1A3 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
  • Episodic ataxia, type 6, MIM#612656

Green SLC1A3 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6, MIM# 612656

Green SLC1A3 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6
  • Episodic ataxia type 6, 612656

Green SLC1A3 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • episodic ataxia type 6 MONDO:0012982

Red SLC1A3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Episodic ataxia, type 6 MIM#612656
Tags
  • neurological