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Skeletal dysplasia

Gene: GDF3

Red List (low evidence)

GDF3 (growth differentiation factor 3)
EnsemblGeneIds (GRCh38): ENSG00000184344
EnsemblGeneIds (GRCh37): ENSG00000184344
OMIM: 606522, Gene2Phenotype
GDF3 is in 6 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Dysostoses with predominant vertebral with and without costal involvement gp of SD - one case reported. Variants also associated with microphthalmia with coloboma type 6 - 613703 and isolated microphthalmia type 7 - 613704.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Klippel-Feil anomaly with laryngeal malformation - 613702


Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GDF3; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.


  • Klippel-Feil anomaly with laryngeal malformation - 613702
Clinvar variants
Variants in GDF3
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Klippel-Feil anomaly with laryngeal malformation - 613702 for gene: GDF3 Publications for gene GDF3 were changed from to 19864492

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: GDF3 was added gene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: GDF3 was set to