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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

3 reviews

Arina Puzriakova (Genomics England Curator)

PMID: 29260090 reported a patient with microphthalmia, kyphoscoliosis and additional skeletal anomalies and the same p.Arg266Cys variant reported in multiple patients before. Unaffected mother was a carrier
Created: 17 Jun 2024, 9:01 a.m. | Last Modified: 17 Jun 2024, 9:01 a.m.
Panel Version: 5.4
Created: 17 Jun 2024, 9:01 a.m.
Last Modified: 17 Jun 2024, 9:01 a.m.
Panel version: 5.4

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

Phenotypes
Klippel-Feil anomaly with laryngeal malformation - 613702

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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.
Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Klippel-Feil anomaly with laryngeal malformation - 613702
OMIM
606522
Clinvar variants
Variants in GDF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2024, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Jun 2024, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GDF3 were set to 19864492

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