Heterotaxy

Gene: DRC1

Red List (low evidence)

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Alternative disease name in OMIM: CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS

PMID: 31960620 - 21 PCD patients (17 families) carrying the common DRC1 CNV mutation, all were noted to NOT have situs inversus.

PMID: 32108610 - one PCD patient with a homozygous nonsense, specifically noted to NOT have abnormal left-right body symmetry.

Summary: No associated to heterotaxy
Created: 1 Jun 2020, 2:54 a.m. | Last Modified: 1 Jun 2020, 2:54 a.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 21, MIM# 615294

Publications

Details

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

History Filter Activity

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drc1 has been classified as Red List (Low Evidence).

1 Jun 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DRC1 were set to

1 Jun 2020, Gel status: 1

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

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drc1 has been classified as Red List (Low Evidence).

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