1. Genes and Genomic Entities
  2. C12orf4

C12orf4

chromosome 12 open reading frame 4
OMIM: 616082, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green C12orf4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.7
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 66, OMIM:618221
    Tags
    • new-gene-name
    Green C12orf4 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 66, OMIM:618221
    Tags
    • new-gene-name