Genomics England
GMS Panels
Panels
Genes and Entities

SLC5A6

solute carrier family 5 member 6
OMIM: 604024
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC5A6-related Neurodevelopmental Disorder
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973