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Hand and foot malformations

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with multiple skeletal phenotypes, including isolated brachydactyly and symphalangism.
Created: 5 Oct 2022, 7:13 a.m. | Last Modified: 5 Oct 2022, 7:13 a.m.
Panel Version: 0.63

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298

Created: 5 Oct 2022, 7:13 a.m.
Last Modified: 5 Oct 2022, 7:13 a.m.
Panel version: 0.63

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brachydactyly, type A1, C, MIM# 615072
  • Brachydactyly, type A2 MIM#112600
  • Brachydactyly, type C, MIM# 113100
  • Symphalangism, proximal, 1B, MIM# 615298
OMIM
601146
Clinvar variants
Variants in GDF5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GDF5 were changed from brachydactyly to Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: gdf5 has been classified as Red List (Low Evidence).

26 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

26 Sep 2022, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: GDF5 was added gene: GDF5 was added to Hand and foot malformations. Sources: Literature Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF5 were set to 9288091; 16127465; 12567410 Phenotypes for gene: GDF5 were set to brachydactyly Penetrance for gene: GDF5 were set to unknown