1. Panels
  2. Newborns main panel
  3. DRC1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: DRC1

Green List (high evidence)
DRC1 (dynein regulatory complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000157856
EnsemblGeneIds (GRCh37): ENSG00000157856
OMIM: 615288, Gene2Phenotype
DRC1 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 23354437 - 3 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 21
OMIM
615288
Clinvar variants
Variants in DRC1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 21 for gene: DRC1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DRC1. Added phenotypes Ciliary dyskinesia, primary, 21 for gene: DRC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21; 9 to Ciliary dyskinesia, primary, 21

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DRC1. Added phenotypes Ciliary dyskinesia, primary, 21 for gene: DRC1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: DRC1 was added gene: DRC1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DRC1 were set to 9