Genomics England
GMS Panels
Panels
Genes and Entities

SLC1A4

solute carrier family 1 member 4
OMIM: 600229
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657, Intellectual disability
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657