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Newborns main panel

Gene: DCLRE1C

Green List (high evidence)
DCLRE1C (DNA cross-link repair 1C)
EnsemblGeneIds (GRCh38): ENSG00000152457
EnsemblGeneIds (GRCh37): ENSG00000152457
OMIM: 605988, Gene2Phenotype
DCLRE1C is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Nearby pseudogene. This was not problematic during modelling VCEP for SNVs but may impact CNV calling.
Created: 25 Sep 2024, 4:27 p.m. | Last Modified: 4 Nov 2024, 3:29 p.m.
Panel Version: 0.469
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50091/
Created: 25 Sep 2024, 4:26 p.m. | Last Modified: 25 Sep 2024, 4:26 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 4:26 p.m.
Last Modified: 4 Nov 2024, 3:29 p.m.
Panel version: 0.469

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
DCLRE1C curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
nearby pseudo-DCLRE1C gene affect variant detection?
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency with sensitivity to ionising radiation
Tags
special_consideration
OMIM
605988
Clinvar variants
Variants in DCLRE1C
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: DCLRE1C.

13 Sep 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: DCLRE1C.

13 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: DCLRE1C.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation for gene: DCLRE1C

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation for gene: DCLRE1C

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation for gene: DCLRE1C

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DCLRE1C. Added phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation for gene: DCLRE1C Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to DCLRE1C. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation for gene: DCLRE1C

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DCLRE1C was added gene: DCLRE1C was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal