This Panel is marked as Retired
A- or hypo-gammaglobulinaemia
Gene: IGLL1
IGLL1 (immunoglobulin lambda like polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000128322
EnsemblGeneIds (GRCh37): ENSG00000128322
OMIM: 146770, Gene2Phenotype
IGLL1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000128322
EnsemblGeneIds (GRCh37): ENSG00000128322
OMIM: 146770, Gene2Phenotype
IGLL1 is in 2 panels
4 reviews
Tracy Briggs (Manchester Genomic Medicine Centre)
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: One positive and two negative expert reviews. No association with disease on Gen2Phen. Two LOF variants reported on a compoud heterozygous patient in the publication.Created: 11 May 2016, 9:53 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Agammaglobulinemia 2, 613500
- OMIM
- 146770
- Clinvar variants
- Variants in IGLL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
11 May 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IGLL1 was changed to BIALLELIC, autosomal or pseudoautosomal
10 May 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for IGLL1 were set to 9419212
28 Apr 2015, Gel status: 1
Added New Source
GEL ()IGLL1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen