RAB23

RAB23, member RAS oncogene family
OMIM: 606144, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green RAB23 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

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

Green RAB23 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carpenter syndrome (MIM#201000)

Green RAB23 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Carpenter syndrome (MIM#201000)

Green RAB23 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RAB23 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Carpenter syndrome (MIM#201000)

    Green RAB23 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    Phenotypes
    • Carpenter syndrome 201000

    Green RAB23 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Carpenter syndrome, 201000 (3)

    Green RAB23 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Carpenter syndrome

    Green RAB23 in Fetal anomalies


    Version 1.313

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Carpenter syndrome (MIM#201000)

    Green RAB23 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Carpenter syndrome, 201000 (3)

    Red RAB23 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Carpenter syndrome (MIM#201000)

    Green RAB23 in Prepair 500+


    Level 2: Screening
    Version 1.5

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Carpenter syndrome, 201000 (3)