1. Genes and Genomic Entities
  2. GTF3C5

GTF3C5

general transcription factor IIIC subunit 5
OMIM: 604890, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green GTF3C5 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss
    • MONDO:0100038
    Green GTF3C5 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
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked