DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1
OMIM: 617083, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green DYNC2LI1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green DYNC2LI1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Green DYNC2LI1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Green DYNC2LI1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Green DYNC2LI1 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Green DYNC2LI1 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 Expert Review Green Other NHS GMS Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes SRTD15 #617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
Green DYNC2LI1 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 Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
Green DYNC2LI1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SRTD15
Green DYNC2LI1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 15 with polydactyly, MIM#617088
Green DYNC2LI1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive