1. Genes and Genomic Entities
  2. RFX7

RFX7

regulatory factor X7
OMIM: 612660, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RFX7 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities
    • MONDO:0957228
    • OMIM:620330.0
    Green RFX7 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330