1. Genes and Genomic Entities
  2. C12orf66

C12orf66

chromosome 12 open reading frame 66
OMIM: 617420, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green C12orf66 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Tags
  • new-gene-name
Amber C12orf66 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.120
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
    Tags
    • new-gene-name
    • Q1_25_ promote_green
    Amber C12orf66 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
    Tags
    • new-gene-name
    • Q1_25_ promote_green