1. Panels
  2. Skeletal Dysplasia_Fetal
  3. DDR2
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal Dysplasia_Fetal

Gene: DDR2

Green List (high evidence)
DDR2 (discoidin domain receptor tyrosine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000162733
EnsemblGeneIds (GRCh37): ENSG00000162733
OMIM: 191311, Gene2Phenotype
DDR2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe perinatal onset skeletal dysplasia.
Created: 30 Nov 2019, 3:46 a.m. | Last Modified: 29 Nov 2021, 7:16 a.m.
Panel Version: 0.820

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR

Publications

Created: 30 Nov 2019, 3:46 a.m.
Last Modified: 29 Nov 2021, 7:16 a.m.
Panel version: Imported from Fetal anomalies panel version 0.820

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
OMIM
191311
Clinvar variants
Variants in DDR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddr2 has been classified as Green List (High Evidence).

23 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665

23 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDR2 were set to

23 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DDR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDR2 was added gene: DDR2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DDR2 was set to Unknown