TTC19

tetratricopeptide repeat domain 19
OMIM: 613814, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TTC19 in Mendeliome


Version 1.4557

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, MIM#615157

Green TTC19 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.16

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2, MIM#615157

    Green TTC19 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.592

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TTC19 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.701

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2, MIM#615157

    Green TTC19 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.194

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Mitochondrial complex III deficiency nuclear type II, 615157
    • Mitochondrial complex III deficiency, nuclear type 2, 615157

    Green TTC19 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2, MIM#615157

    Green TTC19 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)

    Red TTC19 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.224

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2, 615157

    Red TTC19 in Fetal anomalies


    Version 1.543

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157)

    Green TTC19 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 2 MIM#615157