MT-TS1

mitochondrially encoded tRNA serine 1 (UCN)
OMIM: 590080
PanelMode of inheritanceDetails
3 panels
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MITOCHONDRIAL
Phenotypes
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MITOCHONDRIAL
Phenotypes