Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with several neurological manifestations, including DD.
Created: 30 Oct 2024, 6:32 a.m. | Last Modified: 30 Oct 2024, 6:32 a.m.
Panel Version: 0.6608

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hartnup disorder, MIM# 234500

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hartnup disorder, MIM# 234500
OMIM
608893
Clinvar variants
Variants in SLC6A19
Penetrance
None
Panels with this gene

History Filter Activity

30 Oct 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).

30 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500

30 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A19 was added gene: SLC6A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A19 was set to Unknown