Genomics England
GMS Panels
Panels
Genes and Entities

SLC6A5

solute carrier family 6 member 5
OMIM: 604159
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPEREKPLEXIA 149400
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 3, 614618
Green
in Recurrent episodic apnoea
R-numbers: R434
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 3, OMIM:614618