Predominantly Antibody Deficiency
Gene: IGLL1EnsemblGeneIds (GRCh38): ENSG00000128322
EnsemblGeneIds (GRCh37): ENSG00000128322
OMIM: 146770, Gene2Phenotype
IGLL1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three unrelated families reported.Created: 17 Mar 2022, 8:30 p.m. | Last Modified: 17 Mar 2022, 8:30 p.m.
Panel Version: 0.102
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Agammaglobulinaemia 2, MIM# 613500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Agammaglobulinaemia 2, MIM# 613500
- OMIM
- 146770
- Clinvar variants
- Variants in IGLL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igll1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IGLL1 were changed from to Agammaglobulinaemia 2, MIM# 613500
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IGLL1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IGLL1 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: IGLL1 was added gene: IGLL1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IGLL1 was set to Unknown