PanelApp
  1. Genes and Genomic Entities
  2. CRB1

CRB1

crumbs 1, cell polarity complex component
OMIM: 604210, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CRB1 in Mendeliome


Version 1.3519

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 8 MIM#613835
  • Pigmented paravenous chorioretinal atrophy MIM#172870
  • Retinitis pigmentosa-12 MIM#600105

Red CRB1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green CRB1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.182

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Pigmented paravenous chorioretinal atrophy, 172870
    • Leber congenital amaurosis 8, 613835
    • Retinitis pigmentosa-12, autosomal recessive, 600105

    Green CRB1 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.80

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Pigmented paravenous chorioretinal atrophy, 172870
    • Leber congenital amaurosis 8, 613835
    • Retinitis pigmentosa-12, autosomal recessive, 600105

    Green CRB1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.56

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Pigmented paravenous chorioretinal atrophy, 172870
    • Leber congenital amaurosis 8, 613835
    • Retinitis pigmentosa-12, autosomal recessive, 600105

    Green CRB1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 8, 613835 (3)

    Red CRB1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Pigmented paravenous chorioretinal atrophy MIM#172870

    Green CRB1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 8, MIM# 613835

    Green CRB1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 8, 613835 (3)

    Green CRB1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 8, MIM#613835