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Newborns main panel

Gene: SLC6A6

Amber List (moderate evidence)
SLC6A6 (solute carrier family 6 member 6)
EnsemblGeneIds (GRCh38): ENSG00000131389
EnsemblGeneIds (GRCh37): ENSG00000131389
OMIM: 186854, Gene2Phenotype
SLC6A6 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID:31345061 (1 family), PMID: 31903486 (1 family)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hypotaurinemic retinal degeneration and cardiomyopathy
OMIM
186854
Clinvar variants
Variants in SLC6A6
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC6A6. Added phenotypes Hypotaurinemic retinal degeneration and cardiomyopathy for gene: SLC6A6 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC6A6. Added phenotypes Hypotaurinemic retinal degeneration and cardiomyopathy for gene: SLC6A6 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SLC6A6 were changed from Taurine transporter deficiency; Hypotaurinemic retinal degeneration and cardiomyopathy to Hypotaurinemic retinal degeneration and cardiomyopathy

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC6A6. Added phenotypes Hypotaurinemic retinal degeneration and cardiomyopathy for gene: SLC6A6 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SLC6A6 was added gene: SLC6A6 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A6 were set to Taurine transporter deficiency