Genomics England

SLC25A20

solute carrier family 25 member 20

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine-acylcarnitine translocase deficiency 212138, Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Carnitine-acylcarnitine translocase deficiency, OMIM:212138, carnitine-acylcarnitine translocase deficiency, MONDO:0008918
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 5.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia, Carnitine-acylcarnitine translocase deficiency 212138, Carnitine acylcarnitines translocase deficiency CAT, HCM, DCM, Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)