SLC6A5

solute carrier family 6 member 5
OMIM: 604159, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red SLC6A5 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperekplexia 3, MIM#614618

Green SLC6A5 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618

Green SLC6A5 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618

Green SLC6A5 in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618

Green SLC6A5 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618

Green SLC6A5 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 3, 614618 (3)

Green SLC6A5 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperekplexia 3

Green SLC6A5 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 3 MIM#614618

Amber SLC6A5 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Hyperekplexia 3, MIM#614618
Tags
  • for review

Green SLC6A5 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 3, MIM#614618