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 7.10
Latest signed off version: v7.0 (6 May 2026)

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


Level 2: Neurology
Version 9.7
Latest signed off version: v9.0 (6 May 2026)

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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
    Tags
    • new-gene-name
    Green C12orf66 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    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
    • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
    Tags
    • new-gene-name