TMEM70

Green TMEM70 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052

Green TMEM70 in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052

Red TMEM70 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.74
Latest signed off version: v2.2 (19 Feb 2020)

Sources

• Expert Review Red
• Expert list

Phenotypes

• Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Red TMEM70 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.21
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

Sources

• South West GLH
• Expert list

Phenotypes

• syndromic HCM

Green TMEM70 in Mitochondrial disorder with complex V deficiency

Version 1.3
Latest signed off version: v1.2 (17 Feb 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052

Green TMEM70 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.460

Sources

• Expert Review Green
• Literature

Phenotypes

• Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
• Isolated complex V deficiency
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
• Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
• Mitochondrial Diseases

Green TMEM70 in Inborn errors of metabolism

Version 2.141
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Mitochondrial Diseases
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
• Isolated complex V deficiency
• Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
• Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type

Green TMEM70 in Possible mitochondrial disorder - nuclear genes

Version 1.46
Latest signed off version: v1.17 (11 Nov 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052

Red TMEM70 in Fetal anomalies

Version 1.678
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2

Green TMEM70 in DDG2P

Version 2.28
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052

Amber TMEM70 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.374
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Expert Review Amber
• Wessex and West Midlands GLH
• NHS GMS
• Victorian Clinical Genetics Services

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
• seizures

Green TMEM70 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1136
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Phenotypes

• MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2

Green TMEM70 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.42
Latest signed off version: v2.4 (17 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert list
• Expert

Phenotypes

• Isolated complex V deficiency
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
• Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
• Mitochondrial Diseases

Green TMEM70 in Cardiomyopathies - including childhood onset

Version 1.45
Latest signed off version: v1.4 (19 Feb 2020)

Sources

• MetBioNet
• Expert Review Green
• NHS GMS
• Expert Review Green

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052

Red TMEM70 in Childhood onset dystonia or chorea or related movement disorder

Version 1.130
Latest signed off version: v1.58 (6 Oct 2020)

Sources

• Expert Review Red
• London North GLH

Green TMEM70 in Severe Paediatric Disorders

Version 1.78

Sources

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

Phenotypes

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052