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Prepair 1000+

Gene: GDF5

Green List (high evidence)
GDF5 (growth differentiation factor 5)
EnsemblGeneIds (GRCh38): ENSG00000125965
EnsemblGeneIds (GRCh37): ENSG00000125965
OMIM: 601146, Gene2Phenotype
GDF5 is in 9 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

There are a spectrum of skeletal abnormalities of these conditions, with clinical presentations ranging from severe defects of limb morphogenesis to mild ossification. Acromesomelic dysplasia 2A, also known as Grebe type chondrodysplasia. Acromesomelic dysplasia 2B, also known as Du Pan syndrome. These two forms are most severe and autosomal recessive.
For Brachydactyly, type A1 C - heterozygous variant can cause milder form of disease.
Loss of GDF5 activity underlying bone development defects, and gain of function causing disorders with excessive bone formation.
Created: 2 Sep 2024, 7:28 a.m. | Last Modified: 2 Sep 2024, 7:28 a.m.
Panel Version: 1.248

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia 2A MIM#200700; Acromesomelic dysplasia 2B MIM#228900; Brachydactyly, type A1, C MIM#615072

Publications

Created: 2 Sep 2024, 7:28 a.m.
Last Modified: 2 Sep 2024, 7:28 a.m.
Panel version: 1.248

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia, Grebe type, 200700 (3)
OMIM
601146
Clinvar variants
Variants in GDF5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: gdf5 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GDF5 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Chondrodysplasia, Grebe type, 200700 (3) for gene: GDF5

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDF5 was added gene: GDF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)