Disorders of immune dysregulation
Gene: PLCG1
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 ReviewCreated: 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
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: LiteratureCreated: 17 Jul 2023, 12:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immune dysregulation
Publications
Mode of pathogenicity
Other
Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PLCG1 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation
Gene: plcg1 has been classified as Amber List (Moderate Evidence).
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