RBM10

RNA binding motif protein 10
OMIM: 300080, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red RBM10 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • TARP syndrome, MIM# 311900

    Green RBM10 in Mandibulofacial Acrofacial dysostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.14

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • TARP syndrome, MIM# 311900

    Green RBM10 in Mendeliome


    Version 1.3512

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • TARP syndrome, MIM# 311900

    Green RBM10 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.296

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RBM10 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.53

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

    Green RBM10 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

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

    Green RBM10 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • TARP syndrome, 311900 (3), X-linked recessive

    Green RBM10 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • TARP syndrome, 311900 (3)

    Green RBM10 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • TARP syndrome, MIM# 311900

    Green RBM10 in Fetal anomalies


    Version 1.465

    2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Tarp syndrome, MONDO:0010711
    • TARP syndrome, OMIM:311900

    Green RBM10 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • TARP syndrome, 311900 (3)