Genomics England

translocase of inner mitochondrial membrane 50

Panel	Mode of inheritance	Details
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Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type IX, 617698, intellectual disability and seizure, epilepsy and developmental delay, epileptic encephalopathy
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type IX, 617698
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 3-methylglutaconic aciduria, type IX 617698
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type IX 617698
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-methylglutaconic aciduria, type IX, 617698