RMRP

RNA component of mitochondrial RNA processing endoribonuclease
OMIM: 157660, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green RMRP in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Anauxetic dysplasia 1, MIM#607095
Tags
  • non-coding gene

Green RMRP in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cartilage-hair hypoplasia, MIM# 250250
    Tags
    • non-coding gene

    Green RMRP in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cartilage-hair hypoplasia MIM#250250
    Tags
    • non-coding gene

    Green RMRP in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of ribosomal biogenesis
    • cartilage-hair hypoplasia MONDO:0009595
    Tags
    • non-coding gene

    Green RMRP in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cartilage hair hypoplasia (CHH) MIM#250250
    • shortened limbs
    • short stature
    • metaphysical dysplasia
    • fine, sparse and/or light-coloured hair
    • hematologic abnormalities
    • CID
    • impaired lymphocyte proliferation
    • low Ig levels
    • antibodies variably decreased
    • bone marrow failure
    • autoimmunity
    • susceptibility to lymphoma and other cancers
    • impaired spermatogenesis
    • neuronal dysplasia of the intestine
    Tags
    • non-coding gene

    Amber RMRP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Anauxetic dysplasia 1, MIM#607095
    Tags
    • non-coding gene

    Green RMRP in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anauxetic dysplasia 607095
    • Cartilage-hair hypoplasia 250250
    • Metaphyseal dysplasia without hypotrichosis 250460
    Tags
    • non-coding gene

    Green RMRP in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.89

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cartilage hair hypoplasia (CHH) MIM#250250
    • Anauxetic dysplasia 1, MIM# 607095
    • Metaphyseal dysplasia without hypotrichosis, MIM# 250460
    Tags
    • non-coding gene

    Green RMRP in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cartilage-hair hypoplasia, 250250 (3)

    Green RMRP in Metaphyseal dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Metaphyseal dysplasia without hypotrichosis 250460
    • Cartilage-hair hypoplasia 250250
    • Anauxetic dysplasia 607095
    Tags
    • non-coding gene

    Green RMRP in Hair disorders


    Level 2: Dermatological disorders
    Version 0.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cartilage-hair hypoplasia MIM#250250
    Tags
    • non-coding gene

    Green RMRP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Cartilage-hair hypoplasia

    Green RMRP in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Anauxetic dysplasia 1, MIM#607095
    Tags
    • non-coding gene

    Green RMRP in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cartilage-hair hypoplasia, 250250 (3)
    Tags
    • non-coding gene

    Green RMRP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Cartilage-hair hypoplasia MIM#250250
    Tags
    • for review
    • treatable
    • immunological
    • non-coding gene

    Green RMRP in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cartilage-hair hypoplasia, 250250 (3)