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 0.223	review	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
Green DDR2 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665 Warburg-Cinotti syndrome, MIM# 618175
Red DDR2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	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 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type 271665 Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported
Green DDR2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	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	review	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 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR
Green DDR2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Red DDR2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	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