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 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Tags
  • new-gene-name
Red C8orf37 in Limb disorders


Version 4.16
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, 617406
    Tags
    • new-gene-name
    Amber C8orf37 in Bardet Biedl syndrome


    Version 2.4
    Latest signed off version: v2.0 (30 Nov 2022)

    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
    Tags
    • new-gene-name
    Green C8orf37 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONE-ROD DYSTROPHY 16
    Tags
    • new-gene-name
    Green C8orf37 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    Tags
    • new-gene-name
    Amber C8orf37 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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
    Tags
    • new-gene-name
    Green C8orf37 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    Tags
    • new-gene-name
    Red C8orf37 in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Cone-rod dystrophy 16, 614500
    • Eye Disorders
    Tags
    • new-gene-name
    Red C8orf37 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.169

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • Bardet-Biedl syndrome 21, 617406
    Tags
    • new-gene-name
    Green C8orf37 in Ophthalmological ciliopathies


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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
    • new-gene-name
    Red C8orf37 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Tags
    • new-gene-name
    No list C8orf37 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.21
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    • new-gene-name
    • curated_removed
    Green C8orf37 in Severe Paediatric Disorders


    Version 1.182

    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