PanelApp
  1. Genes and Genomic Entities
  2. DYNC2H1

DYNC2H1

dynein cytoplasmic 2 heavy chain 1
OMIM: 603297, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green DYNC2H1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

1 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 DYNC2H1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
  • MONDO:0013127

Amber DYNC2H1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091

Green DYNC2H1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
  • MONDO:0013127

Green DYNC2H1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.296

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
    • MONDO:0013127

    Green DYNC2H1 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.18

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
    • MONDO:0013127

    Green DYNC2H1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
    • MONDO:0013127MONDO:0013127

    Red DYNC2H1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091

    Green DYNC2H1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091
    • Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
    • Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff)

    Green DYNC2H1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • non-syndromic retinitis pigmentosa

    Green DYNC2H1 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
    • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)

    Green DYNC2H1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
    • SRTD3

    Green DYNC2H1 in Fetal anomalies


    Version 1.465

    		1 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 3 with or without polydactyly, MIM# 613091
    • MONDO:0013127

    Green DYNC2H1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)

    Green DYNC2H1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091