DRC1

dynein regulatory complex subunit 1
OMIM: 615288, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DRC1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 21, MIM# 615294
Tags
  • SV/CNV

Red DRC1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 21, MIM# 615294

Green DRC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 21, MIM# 615294
  • Spermatogenic failure 80, MIM# 620222
Tags
  • SV/CNV

Red DRC1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Ciliary dyskinesia, primary, 21, MIM# 615294