CLCC1

chloride channel CLIC like 1
OMIM: 617539, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CLCC1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.11

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • amyotrophic lateral sclerosis MONDO:0004976

    Amber CLCC1 in Incidentalome


    Version 1.9

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • amyotrophic lateral sclerosis MONDO:0004976

    Amber CLCC1 in Mendeliome


    Version 2.361

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Retinitis pigmentosa 32, MIM# 609913

    Amber CLCC1 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.10

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 32, MIM# 609913