Genomics England
GMS Panels
Panels
Genes and Entities

MT-TI

mitochondrially encoded tRNA isoleucine
OMIM: 590045
PanelMode of inheritanceDetails
3 panels
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 7.0
MITOCHONDRIAL
Phenotypes
familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
MITOCHONDRIAL
Phenotypes
familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333
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 6.0
MITOCHONDRIAL
Phenotypes
familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333