Genomics England

SLC37A4

solute carrier family 37 member 4

Panel	Mode of inheritance	Details
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Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Congenital disorder of glycosylation, type IIw, OMIM:619525
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SLC37A4-related congenital disorder of glycosylation with liver dysfunction, Glycogen storage disease Ib, OMIM:232220
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 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	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 5.3	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