Predominantly Antibody Deficiency
Gene: IGKCEnsemblGeneIds (GRCh38): ENSG00000211592
EnsemblGeneIds (GRCh37): ENSG00000211592
OMIM: 147200, Gene2Phenotype
IGKC is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021)
- at least 6 probands
https://search.clinicalgenome.org/CCID:005121
Sources: Expert listCreated: 11 Nov 2024, 8:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Publications
- https://search.clinicalgenome.org/CCID:005121
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
- OMIM
- 147200
- Clinvar variants
- Variants in IGKC
- Penetrance
- None
- Publications
-
- https://search.clinicalgenome.org/CCID:005121
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: igkc has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: igkc has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: IGKC was added gene: IGKC was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121 Phenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 Review for gene: IGKC was set to AMBER