1. Genes and Genomic Entities
  2. CCDC82

CCDC82

coiled-coil domain containing 82
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber CCDC82 in Childhood onset hereditary spastic paraplegia


Version 4.43
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • hereditary spastic paraplegia, MONDO:0019064
Tags
  • gene-checked
Green CCDC82 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked