PanelApp (staging)
  1. Genes and Genomic Entities
  2. C8orf37

C8orf37

chromosome 8 open reading frame 37
OMIM: 614477, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Amber C8orf37 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Green C8orf37 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406
    • Retinitis pigmentosa 64, MIM#614500

    Green C8orf37 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406
    • Retinitis pigmentosa 64, MIM#614500

    Amber C8orf37 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Green C8orf37 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.155

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Retinitis pigmentosa 64, 614500

    Green C8orf37 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy 16, 614500 (3)

    Green C8orf37 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cone-rod dystrophy 16, 614500
    • Retinitis pigmentosa 64, 614500

    Amber C8orf37 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Amber C8orf37 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.13

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 21, MIM#617406

    Green C8orf37 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500