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DDG2P

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 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMIDs: 19110212;8434618).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665

Publications

Mode of pathogenicity
Other

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: uncertain
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665
OMIM
191311
Clinvar variants
Variants in DDR2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DDR2 was added gene: DDR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDR2 were set to 19110212; 8434618 Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 Mode of pathogenicity for gene: DDR2 was set to Other - please provide details in the comments