DYNLT2B

dynein light chain Tctex-type 2B
OMIM: 617353, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DYNLT2B in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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 DYNLT2B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

Green DYNLT2B in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

Green DYNLT2B in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

Green DYNLT2B in Skeletal Ciliopathies


Level 2: Skeletal disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

Green DYNLT2B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405

Green DYNLT2B in Fetal anomalies


Version 2.0

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 17 with or without polydactyly, MONDO:0054565
  • JATD
  • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405