CRB2

crumbs 2, cell polarity complex component
OMIM: 609720, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CRB2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM# 219730

Green CRB2 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM# 219730

Green CRB2 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM# 219730
  • Focal segmental glomerulosclerosis 9, MIM# 616220

Green CRB2 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.229

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventriculomegaly with cystic kidney disease, MIM# 219730

    Green CRB2 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.26

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ventriculomegaly with cystic kidney disease, MIM# 219730

    Green CRB2 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
    • Ventriculomegaly with cystic kidney disease, MIM# 219730

    Amber CRB2 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.156

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Retinitis pigmentosa

    Green CRB2 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
    • Ventriculomegaly with cystic kidney disease, 219730 (3)

    Green CRB2 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventriculomegaly with cystic kidney disease, MIM# 219730

    Green CRB2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ventriculomegaly with cystic kidney disease, MIM# 219730
    • MONDO:0009063
    • Focal segmental glomerulosclerosis 9, MIM# 616220
    • MONDO:0014539