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Newborns main panel

Gene: IGLL1

Green List (high evidence)
IGLL1 (immunoglobulin lambda like polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000128322
EnsemblGeneIds (GRCh37): ENSG00000128322
OMIM: 146770, Gene2Phenotype
IGLL1 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Three variants (nonsense, missense, and frameshift) have been reported in five probands (PMIDs: 25502423, 19302039, 27576013, 9419212, and 33178177)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 2
OMIM
146770
Clinvar variants
Variants in IGLL1
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IGLL1 were changed from Agammaglobulinemia 2 to Agammaglobulinaemia 2

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 2 for gene: IGLL1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IGLL1. Added phenotypes Agammaglobulinemia 2 for gene: IGLL1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IGLL1. Added phenotypes Agammaglobulinemia 2 for gene: IGLL1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IGLL1. Added phenotypes Agammaglobulinemia 2 for gene: IGLL1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IGLL1 was added gene: IGLL1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal