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  3. SLC6A19
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Aminoacidopathy

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 9 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with >10 probands reported with clinical symptoms assocation with Hartnup disease. Mechanism of disease is LoF with affected individuals having a defect in amino acid transportation.

Classified Definitive by Aminoacidopathy GCEP on 07/05/2020 - https://search.clinicalgenome.org/CCID:006196
Sources: ClinGen
Created: 18 Jul 2024, 12:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hartnup disease MONDO:0009324

Publications

Created: 18 Jul 2024, 12:41 a.m.

Panel version: 1.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hartnup disease MONDO:0009324
OMIM
608893
Clinvar variants
Variants in SLC6A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a19 has been classified as Green List (High Evidence).

18 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a19 has been classified as Green List (High Evidence).

18 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: SLC6A19 was added gene: SLC6A19 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 15286787; 15286788; 18484095 Phenotypes for gene: SLC6A19 were set to Hartnup disease MONDO:0009324 Review for gene: SLC6A19 was set to GREEN