Genomics England
GMS Panels
Panels
Genes and Entities

SLC1A3

solute carrier family 1 member 3
OMIM: 600111
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 6,
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 6, Episodic ataxia type 6, 612656
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 6, 612656
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 6, OMIM:612656, episodic ataxia type 6, MONDO:0012982