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  2. Disorders of immune dysregulation
  3. PLCG1
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Disorders of immune dysregulation

Gene: PLCG1

Amber List (moderate evidence)
PLCG1 (phospholipase C gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000124181
EnsemblGeneIds (GRCh37): ENSG00000124181
OMIM: 172420, Gene2Phenotype
PLCG1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease
Sources: Expert Review
Created: 25 Jul 2023, 7:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514

Publications

Mode of pathogenicity
Other

Created: 25 Jul 2023, 7:47 a.m.

Panel version: Imported from Mendeliome panel version 1.1224

Peter McNaughton (Queensland Children's Hospital)

I don't know

Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease
Sources: Literature
Created: 17 Jul 2023, 12:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immune dysregulation

Publications

Mode of pathogenicity
Other

Created: 17 Jul 2023, 12:15 a.m.

Panel version: 0.176

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
OMIM
172420
Clinvar variants
Variants in PLCG1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plcg1 has been classified as Amber List (Moderate Evidence).

25 Jul 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCG1 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plcg1 has been classified as Amber List (Moderate Evidence).

17 Jul 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Peter McNaughton (Queensland Children's Hospital)

gene: PLCG1 was added gene: PLCG1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to PMID: 37422272 Phenotypes for gene: PLCG1 were set to Immune dysregulation Mode of pathogenicity for gene: PLCG1 was set to Other Review for gene: PLCG1 was set to AMBER