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  2. Ciliary Dyskinesia
  3. DRC1
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Ciliary Dyskinesia

Gene: DRC1

Green List (high evidence)
DRC1 (dynein regulatory complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000157856
EnsemblGeneIds (GRCh37): ENSG00000157856
OMIM: 615288, Gene2Phenotype
DRC1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note common deletion present in Japanese.
Created: 4 Feb 2020, 2:15 a.m. | Last Modified: 4 Feb 2020, 2:15 a.m.
Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 21, MIM# 615294

Publications

Created: 4 Feb 2020, 2:15 a.m.
Last Modified: 4 Feb 2020, 2:15 a.m.
Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 21, MIM# 615294
Tags
SV/CNV
OMIM
615288
Clinvar variants
Variants in DRC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drc1 has been classified as Green List (High Evidence).

4 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DRC1 were changed from to Ciliary dyskinesia, primary, 21, MIM# 615294

4 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DRC1 were set to

4 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DRC1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DRC1 was added gene: DRC1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DRC1 was set to Unknown