SCID
Gene: DCLRE1C

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

6 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Agreement from 5 reviewers.
Created: 20 May 2016, 2:03 p.m.

Created: 20 May 2016, 2:03 p.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

Phenotypes

Severe combined immunodeficiency, Athabascan type, 602450
T-B- SCID
T-B+ SCID
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

OMIM

605988

Clinvar variants

Variants in DCLRE1C

Penetrance

Complete

Panels with this gene