Genomics England
GMS Panels
Panels
Genes and Entities

SLC1A1

solute carrier family 1 member 1
OMIM: 133550
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dicarboxylic aminoaciduria 222730