MT-TH

Green MT-TH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green

Tags

• gene-checked

Green MT-TH in Likely inborn error of metabolism - targeted testing not possible

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Tags

• gene-checked

Green MT-TH in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• UKGTN

Tags

• gene-checked

Amber MT-TH in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• RetNet
• Expert Review Amber

No list MT-TH in Childhood onset dystonia, chorea or related movement disorder

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Removed
• London North GLH

Tags

• curated_removed

Green MT-TH in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
• PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
• CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
• MERRF/MELAS OVERLAP SYNDROME