SLC6A17

solute carrier family 6 member 17
OMIM: 610299, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SLC6A17 in Mendeliome


Version 1.4851

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 48, MIM# 616269

Green SLC6A17 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 48, MIM# 616269

Green SLC6A17 in Growth failure


Version 1.107

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 48, MIM# 616269

Red SLC6A17 in Fetal anomalies


Version 1.576

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 48, MIM# 616269