Genomics England
GMS Panels
Panels
Genes and Entities

MT-TS1

mitochondrially encoded tRNA serine 1 (UCN)
OMIM: 590080
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
MITOCHONDRIAL
Phenotypes
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
MERRF/MELAS OVERLAP SYNDROME, MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED, EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA