Genomics England

SLC22A5

solute carrier family 22 member 5

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	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 8.4	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 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919