1. Genes and Genomic Entities
  2. C12orf57

C12orf57

chromosome 12 open reading frame 57
OMIM: 615140, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green C12orf57 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Temtamy syndrome, 218340
Green C12orf57 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Temtamy syndrome, OMIM:218340
Green C12orf57 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340
    • TEMTAMY SYNDROME
    Green C12orf57 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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Temtamy syndrome 218340
    Green C12orf57 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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Temtamy syndrome, 218340
    • TEMTAMY SYNDROME
    • COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
    Green C12orf57 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Temtamy syndrome, 218340