Severe Combined Immunodeficiency (absent T present B cells)
Gene: CORO1AEnsemblGeneIds (GRCh38): ENSG00000102879
EnsemblGeneIds (GRCh37): ENSG00000102879
OMIM: 605000, Gene2Phenotype
CORO1A is in 4 panels
1 review
Danielle Ariti (University of Melbourne)
3 unrelated families and 1 unrelated individual reported with bi-allelic (deletion, missense, insertion) variants, resulting truncated protein/ altering a highly conserved residue in binding domain; one mouse model
All patients displayed T−B+NK+ SCID or CID presenting in early-onset recurrent infections and additional features that included EBV-associated lymphoproliferative disease and low immunoglobulin levels.
Additionally, one patient presented with post-vaccination varicella and another with shortened telomeres (1 patient).Created: 30 Sep 2021, 12:19 a.m. | Last Modified: 30 Sep 2021, 12:19 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 8 MIM# 615401
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency 8, MIM# 615401
- Tags
- OMIM
- 605000
- Clinvar variants
- Variants in CORO1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CORO1A.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coro1a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM# 615401
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CORO1A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CORO1A was added gene: CORO1A was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CORO1A was set to Unknown