Severe Combined Immunodeficiency (absent T absent B cells)
Gene: DCLRE1C
Well-established gene-disease association; over 40 unique DCLRE1C variants have been reported that result in RS-SCID; multiple mouse models
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.
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)
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.Created: 26 Aug 2021, 4:58 a.m. | Last Modified: 26 Aug 2021, 4:58 a.m.
Panel Version: 0.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency, Athabascan type MIM# 602450; Absent/reduced T and B cells; decreased Ig levels; Normal NK cell number; increased risk of graft rejection possibly due to activated NK cells; radiation sensitivity; failure to thrive; recurrent respiratory infections; diarrhoea; fever; hypogammmaglobulinaemia
Publications
Gene: dclre1c has been classified as Green List (High Evidence).
Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Absent/reduced T and B cells; decreased Ig levels; Normal NK cell number; increased risk of graft rejection possibly due to activated NK cells; radiation sensitivity; failure to thrive; recurrent respiratory infections; diarrhoea; fever; hypogammmaglobulinaemia
Publications for gene: DCLRE1C were set to
Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: DCLRE1C was added gene: DCLRE1C was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: DCLRE1C was set to Unknown