PanelApp
  1. Genes and Genomic Entities
  2. RMND1

RMND1

required for meiotic nuclear division 1 homolog
OMIM: 614917, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green RMND1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 11 MIM#614922

Green RMND1 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 Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11 MIM#614922

    Green RMND1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11 MIM#614922

    Green RMND1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11 MIM#614922

    Green RMND1 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
    • Combined oxidative phosphorylation deficiency 11 MIM#614922

    Green RMND1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review
    Phenotypes
    • Combined oxidative phosphorylation defect type 11 MONDO:0013969

    Green RMND1 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
    • Combined oxidative phosphorylation deficiency 11, 614922 (3)

    Green RMND1 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922

    Green RMND1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11, MIM#614922

    Green RMND1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11 MIM#614922

    Green RMND1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined oxidative phosphorylation deficiency 11, MIM#614922