PanelApp
  1. Genes and Genomic Entities
  2. TMEM70

TMEM70

transmembrane protein 70
OMIM: 612418, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber TMEM70 in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052

Green TMEM70 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052

Amber TMEM70 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052

    Green TMEM70 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green TMEM70 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052

    Red TMEM70 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.25

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052

    Green TMEM70 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)

    Green TMEM70 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052

    Green TMEM70 in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052

    Amber TMEM70 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052

    Green TMEM70 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial disease MONDO:0044970