A- or hypo-gammaglobulinaemia

Gene: IGLL1

Red List (low evidence)

IGLL1 (immunoglobulin lambda like polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000128322
EnsemblGeneIds (GRCh37): ENSG00000128322
OMIM: 146770, Gene2Phenotype
IGLL1 is in 1 panel

4 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

Red List (low evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

3 patients now identified
Created: 6 Jan 2017, 3:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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