DRC1

dynein regulatory complex subunit 1
OMIM: 615288, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green DRC1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 21, 615294
Red DRC1 in Laterality disorders and isomerism


Version 3.10
Latest signed off version: v3.9 (1 May 2024)

review Not set
Sources
  • Expert Review Red
  • NHS GMS
Green DRC1 in Respiratory ciliopathies including non-CF bronchiectasis


Version 3.11
Latest signed off version: v3.10 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 21, 615294
Amber DRC1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILARY DYSKINEASIA
Green DRC1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PRIMARY CILARY DYSKINEASIA 244400
    Red DRC1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 21, 615294