1. Genes and Genomic Entities
  2. TMEM70

TMEM70

transmembrane protein 70
OMIM: 612418, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Green TMEM70 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
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 1.23

review BIALLELIC, autosomal or pseudoautosomal
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 Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
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

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:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM
    Green TMEM70 in Mitochondrial disorder with complex V deficiency


    Version 2.16
    Latest signed off version: v2.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    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 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    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 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:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
    Green TMEM70 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • IUGR
    • Oligohydramnios
    • Anhydramnios
    • Cardiomyopathy
    Green TMEM70 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052
    Amber TMEM70 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:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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, chorea or related movement disorder


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

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green TMEM70 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
    Green TMEM70 in Mitochondrial Complex V deficiency, TMEM70 type


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green