Newborns additional phenotypes panel 1
Gene: SLC6A5

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 11 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: 7 Jul 2023, 9:26 a.m. | Last Modified: 7 Jul 2023, 9:26 a.m.

Panel Version: 0.31

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: 7 Jul 2023, 9:26 a.m. | Last Modified: 7 Jul 2023, 9:26 a.m.

Panel Version: 0.31

Created: 7 Jul 2023, 9:26 a.m.
Last Modified: 7 Jul 2023, 9:26 a.m.
Panel version: 0.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Hyperekplexia 3 autosomal dominant

OMIM

604159

Clinvar variants

Variants in SLC6A5

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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 dominant

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

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