Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: SLC6A19

Green List (high evidence)

SLC6A19 (solute carrier family 6 member 19)
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 8 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

I am not sure why this gene has been added with monoallelic inheritance as an option as Hartnup is a recessive condition. Suggest inheritance is changed to biallelic only
Created: 20 Feb 2024, 10:13 a.m. | Last Modified: 20 Feb 2024, 10:13 a.m.
Panel Version: 4.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P / DD. At least 6 variants reported in 8 cases of Hartnup disorder 234500
Created: 19 Jan 2017, 11:16 a.m.


Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Iminoglycinuria, digenic
  • Hartnup disorder AD
Clinvar variants
Variants in SLC6A19
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC6A19. Source London North GLH was added to SLC6A19.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC6A19 was added gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424 Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD