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Molecular autopsy

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 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts) Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. Achchuthan Shanmugasundram (Genomics England Curator), 11 Jun 2024
Created: 17 Sep 2024, 2:26 p.m. | Last Modified: 17 Sep 2024, 2:32 p.m.
Panel Version: 0.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 17 Sep 2024, 2:26 p.m.
Last Modified: 17 Sep 2024, 2:32 p.m.
Panel version: 0.113

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Iminoglycinuria, digenic
  • Hartnup disorder AD
OMIM
608893
Clinvar variants
Variants in SLC6A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424

17 Sep 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC6A19 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

17 Sep 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Iminoglycinuria, digenic; Hartnup disorder AD for gene: SLC6A19

20 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 Molecular autopsy. 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