MT-TL1

No list MT-TL1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

Sources

• Expert Review Removed
• UKGTN

Phenotypes

• Monogenic Diabetes

Tags

• curated_removed

No list MT-TL1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

Sources

• Literature

Phenotypes

• Nonimmune hydrops fetalis

Green MT-TL1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

Sources

• Expert Review Green
• Eligibility statement prior genetic testing
• UKGTN

Phenotypes

• MELAS syndrome
• Diabetes-Deafness Syndrome, Maternally Transmitted
• DIABETES AND DEAFNESS, MATERNALLY INHERITED
• MIDD

Tags

• gene-checked

Red MT-TL1 in Other rare neuromuscular disorders

Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
• MELAS 540000

No list MT-TL1 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

Sources

• Expert Review Removed
• Literature
• Other

Phenotypes

• Sudden infant death syndrome, 272120
• SIDS
• SIDS

Tags

• curated_removed

Green MT-TL1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

Sources

• NHS GMS
• Expert Review Green
• UKGTN

Phenotypes

• MELAS syndrome

Tags

• gene-checked

Red MT-TL1 in Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• South West GLH
• Expert Review

Green MT-TL1 in Monogenic diabetes

Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• maternally-inherited diabetes and deafness, MONDO:0010785

Tags

• gene-checked

Red MT-TL1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert Review Red
• UKGTN

Red MT-TL1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• UKGTN

Phenotypes

• MELAS syndrome, MONDO:0010789

Green MT-TL1 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-TL1 in Likely inborn error of metabolism - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Tags

• gene-checked

Red MT-TL1 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• DD-Gene2Phenotype

Phenotypes

• MT-TL1-associated mitochondrial disorder

Green MT-TL1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

Sources

• Expert Review Green
• NHS GMS
• London North GLH

Phenotypes

• Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy

Tags

• gene-checked

Red MT-TL1 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• UKGTN

Red MT-TL1 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• UKGTN
• Expert Review Red

Green MT-TL1 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory
• UKGTN

Tags

• gene-checked

Amber MT-TL1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Amber
• NHS GMS

Phenotypes

• Retinal dystrophy, HP:0000556
• Macular dystrophy, HP:0007754

Tags

• Q1_24_promote_green
• Q1_24_NHS_review

Amber MT-TL1 in Hereditary neuropathy or pain disorder

Version 3.94
Latest signed off version: v3.24 (15 May 2023)

Sources

• Expert Review Amber
• London North GLH
• NHS GMS
• NHS GMS
• London North GLH

Phenotypes

• Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy

No list MT-TL1 in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Removed
• London North GLH

Tags

• curated_removed

Green MT-TL1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• MELAS SYNDROME