SLC6A19

solute carrier family 6 member 19
OMIM: 608893, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SLC6A19 in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hartnup disorder, MIM# 234500
  • Hyperglycinuria, MIM# 138500
  • Iminoglycinuria, MIM# 242600

Green SLC6A19 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Hartnup disorder, MIM# 234500

Green SLC6A19 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SLC6A19 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
  • Genetic Health Queensland
Phenotypes
  • Hartnup disorder, MIM# 234500

Green SLC6A19 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Hartnup disorder, MIM # 234500

Green SLC6A19 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hartnup disorder, MIM# 234500
  • Hyperglycinuria, MIM# 138500
  • Iminoglycinuria, MIM# 242600

Green SLC6A19 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Hartnup disease MONDO:0009324

Red SLC6A19 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hartnup disorder, MIM # 234500

Green SLC6A19 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperglycinuria, MIM# 138500
  • Hartnup disorder, MIM# 234500
  • Iminoglycinuria, MIM# 242600