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Fetal anomalies

Gene: GDF5

Green List (high evidence)

GDF5 (growth differentiation factor 5)
EnsemblGeneIds (GRCh38): ENSG00000125965
EnsemblGeneIds (GRCh37): ENSG00000125965
OMIM: 601146, Gene2Phenotype
GDF5 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:29595812:Maternally-inherited variant (VUS) identified in GDF5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis made.
Created: 18 Apr 2019, 3:54 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, Confirmed for BRACHYDACTYLY TYPE C, Confirmed for DU PAN SYNDROME, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 2, Confirmed for BRACHYDACTYLY TYPE A1, Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE and Confirmed for BRACHYDACTYLY TYPE A2.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain for all disorders.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY TYPE C
  • SYMPHALANGISM PROXIMAL SYNDROME
  • DU PAN SYNDROME
  • BRACHYDACTYLY TYPE A1
  • ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE
  • ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE
  • BRACHYDACTYLY TYPE A2
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 2
OMIM
601146
Clinvar variants
Variants in GDF5
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY TYPE A2 for gene: GDF5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE for gene: GDF5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SYMPHALANGISM PROXIMAL SYNDROME for gene: GDF5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY TYPE A1 for gene: GDF5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 2 for gene: GDF5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes DU PAN SYNDROME for gene: GDF5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY TYPE C for gene: GDF5

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GDF5 was added gene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE