1. Genes and Genomic Entities
  2. GDF3

GDF3

growth differentiation factor 3
OMIM: 606522, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red GDF3 in Familial Neural Tube Defects


Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome
Red GDF3 in Ocular coloboma

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 3, autosomal dominant, 613702
Red GDF3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • Klippel-Feil anomaly with laryngeal malformation - 613702
    Red GDF3 in DDG2P


    Version 6.447
    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 Red
    Phenotypes
    • MICROPHTHALMIA ISOLATED TYPE 7 613704
    • KLIPPEL-FEIL SYNDROME TYPE 3 613702
    • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703
    Red GDF3 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Klippel-Feil syndrome 3, autosomal dominant, 613702
    Amber GDF3 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Klippel-Feil syndrome 3, autosomal dominant, OMIM:613702
    • Klippel-Feil syndrome 3, autosomal dominant, MONDO:0013375
    • Microphthalmia with coloboma 6, OMIM:613703
    • microphthalmia, isolated, with coloboma 6, MONDO:0013376
    • Microphthalmia, isolated 7, OMIM:613704
    • isolated microphthalmia 7, MONDO:0013377