DDR2

discoidin domain receptor tyrosine kinase 2
OMIM: 191311, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green DDR2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077
Green DDR2 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077 Warburg-cinotti syndrome, MONDO:0032579
Red DDR2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Warburg-Cinotti syndrome, MIM#618175, AD Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR
Green DDR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Expert Review Green NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077
Green DDR2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Red DDR2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type
Green DDR2 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077
Green DDR2 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Red DDR2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	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