Genomics England

TRMT5

tRNA methyltransferase 5

Panel	Mode of inheritance	Details
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Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539