1. Genes and Genomic Entities
  2. C8orf37

C8orf37

chromosome 8 open reading frame 37
OMIM: 614477, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red C8orf37 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

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


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Ophthalmology
    Version 2.9
    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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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 1.180

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


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    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 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    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