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| Mendeliome v1.1225 | PLCG1 | Zornitza Stark Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1224 | PLCG1 | Zornitza Stark edited their review of gene: PLCG1: Changed phenotypes: Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Marked gene: PLCG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Classified gene: PLCG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1013 | PLCG1 |
Zornitza Stark gene: PLCG1 was added gene: PLCG1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to 37422272 Phenotypes for gene: PLCG1 were set to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation Mode of pathogenicity for gene: PLCG1 was set to Other Review for gene: PLCG1 was set to AMBER Added comment: 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 |
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