Gene Symbol:
DDR2
HGNC:2731
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q23.3
Filters:

Definitive classifications

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
AR
05/30/2023
Evaluated
04/21/2024
Submitted

Strong classifications

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Submitted as: OMIM:271665
AR
04/09/2020
Evaluated
11/30/2023
Submitted
warburg-cinotti syndrome
Submitted as: OMIM:618175
AD
01/09/2025
Evaluated
01/17/2025
Submitted

Moderate classifications

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Submitted as: OMIM:271665
AR
08/31/2018
Evaluated
12/24/2020
Submitted
warburg-cinotti syndrome
AD
05/30/2023
Evaluated
04/21/2024
Submitted

Supportive classifications

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Submitted as: Orphanet:93358
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

warburg-cinotti syndrome
AD
08/21/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The DDR2 gene is located on chromosome 1 at 1q23.3 and encodes the discoidin domain receptor tyrosin... Read more
warburg-cinotti syndrome
Submitted as: OMIM:618175
AD
09/09/2019
Evaluated
12/24/2020
Submitted
warburg-cinotti syndrome
Submitted as: OMIM:618175
Unknown
03/15/2019
Evaluated
11/30/2023
Submitted

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