ROR2

receptor tyrosine kinase like orphan receptor 2
OMIM: 602337, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green ROR2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal recessive - MIM#268310

Green ROR2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.145

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ROR2 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Robinow syndrome, autosomal recessive MIM# 268310
    • hypertelorism
    • short stature
    • mesomelic shortening of the limbs
    • hypoplastic genitalia
    • rib/vertebral anomalies
    • abnormal morphogenesis of the face
    • Brachydactyly, type B1 MIM# 113000
    • hypoplasia/aplasia of distal phalanges and nails (2-5)

    Green ROR2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Robinow syndrome, autosomal recessive, MIM#268310

    Green ROR2 in Skeletal dysplasia

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

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brachydactyly, type B1 113000
    • Robinow syndrome, autosomal recessive 268310

    Green ROR2 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
    • Robinow syndrome, autosomal recessive, 268310 (3)

    Green ROR2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Brachydactyly, type B1
    • Robinow syndrome

    Green ROR2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
    • RRS

    Green ROR2 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Robinow syndrome, autosomal recessive MIM# 268310
    • hypertelorism
    • short stature
    • mesomelic shortening of the limbs
    • hypoplastic genitalia
    • rib/vertebral anomalies
    • abnormal morphogenesis of the face

    Green ROR2 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Robinow syndrome, autosomal recessive 268310
    • Brachydactyly, type B1 113000

    Green ROR2 in Fetal anomalies


    Version 1.314

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Brachydactyly, type B1 MIM#113000
    • Robinow syndrome, autosomal recessive MIM#268310

    Green ROR2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Robinow syndrome, autosomal recessive, 268310 (3)

    Red ROR2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Robinow syndrome, autosomal recessive - MIM#268310