Genomics England

TRMT5

tRNA methyltransferase 5

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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: - 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 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539