Genomics England
GMS Panels
Panels
Genes and Entities

SLC37A4

solute carrier family 37 member 4
OMIM: 602671
PanelMode of inheritanceDetails
4 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital disorder of glycosylation, type IIw, OMIM:619525
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ib, OMIM:232220, Glycogen storage disease Ic, OMIM:232240
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ib, OMIM:232220, Glycogen storage disease Ic, OMIM:232240, Congenital disorder of glycosylation, type IIw, OMIM:619525
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ib, OMIM:232220, Glycogen storage disease Ic, OMIM:232240, Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly, Congenital defects of phagocyte number or function