1. Genes and Genomic Entities
  2. C12orf4

C12orf4

chromosome 12 open reading frame 4
OMIM: 616082, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green C12orf4 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 66, OMIM:618221
    Tags
    • new-gene-name