DYNC2H1

Green DYNC2H1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

Sources

• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

No list DYNC2H1 in Limb disorders

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services
• Other

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Tags

• curated_removed

No list DYNC2H1 in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Tags

• curated_removed

Red DYNC2H1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Green DYNC2H1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Green DYNC2H1 in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Green DYNC2H1 in Fetal anomalies

Version 3.154
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SHORT RIB-POLYDACTYLY SYNDROME TYPE 3
• ASPHYXIATING THORACIC DYSTROPHY TYPE 3

No list DYNC2H1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green DYNC2H1 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091
• SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510

Green DYNC2H1 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Red DYNC2H1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.524
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Amber DYNC2H1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.83
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Literature

Phenotypes

• retinitis pigmentosa, MONDO:0019200

Tags

• Q3_23_promote_green

Green DYNC2H1 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.170

Sources

• Expert Review Green
• Other
• Orphanet
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Green DYNC2H1 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Other
• Emory Genetics Laboratory

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Green DYNC2H1 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Other
• Emory Genetics Laboratory

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

Red DYNC2H1 in Childhood onset dystonia, chorea or related movement disorder

Version 3.75
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green DYNC2H1 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Short-rib thoracic dysplasia 3 with or without polydactyly, 613091