CRB1

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red CRB1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

review Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red CRB1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pigmented Paravenous Chorioretinal Atrophy

Red CRB1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

review Not set
Sources
  • Emory Genetics Laboratory

Red CRB1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red CRB1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Red CRB1 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • LEBER CONGENITAL AMAUROSIS 8
    • RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE

    Green CRB1 in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105
    • LEBER CONGENITAL AMAUROSIS 8 613835

    Red CRB1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Retinitis pigmentosa-12, autosomal recessive, 600105
    • Leber congenital amaurosis 8, 613835
    • Pigmented paravenous chorioretinal atrophy, 172870

    Green CRB1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Leber Congenital Amaurosis, OMIM:613835
    • Retinitis pigmentosa-12, OMIM:600105

    Amber CRB1 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa-12, autosomal recessive, 600105
    • Pigmented paravenous chorioretinal atrophy
    • Leber congenital amaurosis 8, 613835
    • Eye Disorders

    Red CRB1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.160

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies

    Red CRB1 in Ophthalmological ciliopathies


    Version 1.30
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies

    Green CRB1 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 8, 613835
    • Pigmented paravenous chorioretinal atrophy, 172870
    • Retinitis pigmentosa-12, 600105