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| Phagocyte Defects v1.23 | TCIRG1 | Zornitza Stark Marked gene: TCIRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.23 | TCIRG1 | Zornitza Stark Gene: tcirg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.23 | TCIRG1 | Zornitza Stark Classified gene: TCIRG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.23 | TCIRG1 | Zornitza Stark Gene: tcirg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.22 | TCIRG1 |
Zornitza Stark gene: TCIRG1 was added gene: TCIRG1 was added to Phagocyte Defects. Sources: Expert Review Mode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCIRG1 were set to 24753205; 35573728 Phenotypes for gene: TCIRG1 were set to severe congenital neutropenia, MONDO:0018542 Review for gene: TCIRG1 was set to AMBER Added comment: Biallelic variants in this gene have already been associated with Osteopetrosis (MIM #259700). Newer reports of individuals with monoallelic TCIRG1 variants and congenital neutropenia. PMID:24753205 reported a five generation family segregating a novel SNV in TCIRG1 (p.Arg736Ser) with congenital neutropenia. PMID:35573728 - A seven years old patient suspected for Congenital Neutropenia, having symptoms related to chronic infections was reported with p.Val52Leu variant. Sources: Expert Review |
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