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Newborns main panel

Gene: PLCG2

Amber List (moderate evidence)
PLCG2 (phospholipase C gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000197943
EnsemblGeneIds (GRCh37): ENSG00000197943
OMIM: 600220, Gene2Phenotype
PLCG2 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34093563 - 11 cases
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID)
OMIM
600220
Clinvar variants
Variants in PLCG2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PLCG2. Added phenotypes Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) for gene: PLCG2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 PLCG2. Added phenotypes Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) for gene: PLCG2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: PLCG2.

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 PLCG2. Added phenotypes Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) for gene: PLCG2 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 PLCG2. Added phenotypes Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) for gene: PLCG2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: PLCG2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: PLCG2.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PLCG2 was added gene: PLCG2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown