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Prepair 1000+

Gene: DCLRE1C

Green List (high evidence)

DCLRE1C (DNA cross-link repair 1C)
EnsemblGeneIds (GRCh38): ENSG00000152457
EnsemblGeneIds (GRCh37): ENSG00000152457
OMIM: 605988, Gene2Phenotype
DCLRE1C is in 11 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3 (~59%)
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"
Created: 17 Dec 2024, 4:46 a.m. | Last Modified: 29 Jan 2025, 2:30 a.m.
Panel Version: 1.1357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, Athabascan type, MIM# 602450; Omenn syndrome, MIM# 603554

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, MIM# 602450
  • Omenn syndrome, MIM# 603554
OMIM
605988
Clinvar variants
Variants in DCLRE1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dclre1c has been classified as Green List (High Evidence).

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, 602450 (3) to Severe combined immunodeficiency, Athabascan type, MIM# 602450; Omenn syndrome, MIM# 603554

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCLRE1C were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Severe combined immunodeficiency, Athabascan type, 602450 (3) for gene: DCLRE1C

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCLRE1C was added gene: DCLRE1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)