Severe Combined Immunodeficiency (absent T absent B cells)
Gene: NUDCD3EnsemblGeneIds (GRCh38): ENSG00000015676
EnsemblGeneIds (GRCh37): ENSG00000015676
OMIM: 610296, Gene2Phenotype
NUDCD3 is in 2 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
Multiple familial cases from 4 unrelated consanguineous kindreds of South Asian origin presenting with SCID or Omenn syndrome. Extensive functional validation including knock in mouse model demonstrating impaired VDJ recombination.
Sources: LiteratureCreated: 27 May 2024, 4:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency; omenn syndrome
Publications
- PMID: 38787962
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Severe combined immunodeficiency
- omenn syndrome
- OMIM
- 610296
- Clinvar variants
- Variants in NUDCD3
- Penetrance
- None
- Publications
-
- PMID: 38787962
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nudcd3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nudcd3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: NUDCD3 was added gene: NUDCD3 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD3 were set to PMID: 38787962 Phenotypes for gene: NUDCD3 were set to Severe combined immunodeficiency; omenn syndrome Review for gene: NUDCD3 was set to GREEN