C8orf37

chromosome 8 open reading frame 37
OMIM: 614477, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red C8orf37 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.41

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

Red C8orf37 in Limb disorders


Version 2.65
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, 617406

    Amber C8orf37 in Bardet Biedl syndrome


    Version 1.11
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
    • Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
    • Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200

    Green C8orf37 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONE-ROD DYSTROPHY 16

    Green C8orf37 in DDG2P


    Version 2.50
    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
    • CONE-ROD DYSTROPHY 16 614500

    Amber C8orf37 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Retinitis pigmentosa 64, 614500
    • Cone-rod dystrophy 16, 614500

    Green C8orf37 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.228
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
    • Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
    • Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200

    Red C8orf37 in Structural eye disease


    Version 1.88
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Cone-rod dystrophy 16, 614500
    • Eye Disorders

    Red C8orf37 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.149

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • Bardet-Biedl syndrome 21, 617406

    Amber C8orf37 in Ophthalmological ciliopathies


    Version 1.25
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
    • Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
    • Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
    Tags
    • for-review

    Red C8orf37 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Bardet-Biedl syndrome 21, 617406

    No list C8orf37 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.11
    Latest signed off version: v1.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Other
    Phenotypes
    • Bardet-Biedl syndrome 21, 617406
    Tags
    • curated_removed

    Green C8orf37 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cone-rod dystrophy 16, 614500
    • Retinitis pigmentosa 64, 614500
    • Bardet-Biedl syndrome 21, 617406