GTF3C3

general transcription factor IIIC subunit 3
OMIM: 604888, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green GTF3C3 in Severe microcephaly


Level 2: Neurology
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Green GTF3C3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.158
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Green GTF3C3 in DDG2P


Version 6.427
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy
    • MONDO:0100038
    Green GTF3C3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.158
    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 Green
    • NHS GMS
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
    Green GTF3C3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    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 Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201