Genomics England

SLC22A5

solute carrier family 22 member 5

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.44	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.39	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919