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BabyScreen+ newborn screening

Gene: DDR2

Red List (low 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)

Red List (low evidence)

AR LoF variants cause a skeletal dysplasia of perinatal onset, whereas AD GoF variants cause a syndromic disorder.

No specific treatment for either.
Created: 23 Oct 2022, 5:26 a.m. | Last Modified: 23 Oct 2022, 5:26 a.m.
Panel Version: 0.604

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175

Created: 23 Oct 2022, 5:25 a.m.
Last Modified: 23 Oct 2022, 5:25 a.m.
Panel version: 0.604

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
  • Warburg-Cinotti syndrome, MIM# 618175
OMIM
191311
Clinvar variants
Variants in DDR2
Penetrance
None
Panels with this gene

History Filter Activity

23 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddr2 has been classified as Red List (Low Evidence).

23 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175

23 Oct 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DDR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDR2 was added gene: DDR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type