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This Panel is marked as Internal

Newborns main panel
Gene: SLC6A5

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and dominant-negative (DN) for autosomal dominant MOI.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:26 a.m.

Panel Version: 0.146

PMID: 34379238 - evidence for LOF and DN PMID: 16751771 - 5 autosomal recessive, 1 autosomal dominant PMID: 24030948 - 22 recessive molecularly confirmed. PMID: 34379238 - 2 dominant families
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: 7 Jul 2023, 9:26 a.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Hyperekplexia 3 autosomal recessive

OMIM

Clinvar variants

Variants in SLC6A5

Penetrance

None

Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3 to Hyperekplexia 3 autosomal recessive

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 SLC6A5. Added phenotypes Hyperekplexia 3 for gene: SLC6A5 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC6A5. Mode of inheritance for gene SLC6A5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 3 for gene: SLC6A5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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 SLC6A5. Added phenotypes Hyperekplexia 3 for gene: SLC6A5 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperekplexia 3 for gene: SLC6A5

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC6A5 was added gene: SLC6A5 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal