Genomics England
GMS Panels
Panels
Genes and Entities

SLC7A7

solute carrier family 7 member 7
OMIM: 603593
PanelMode of inheritanceDetails
2 panels
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysinuric protein intolerance (Disorders of amino acid transport), Lysinuric protein intolerance 222700
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysinuric protein intolerance SLC7A7 deficiency, Severe bacterial infections, Predominantly Antibody Deficiencies, Lysinuric protein intolerance, 222700