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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 | POLR3C | Ivone Leong Classified gene: POLR3C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 | POLR3C | Ivone Leong Added comment: Comment on list classification: Rating given based on expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 | POLR3C | Ivone Leong Gene: polr3c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | POLR3C |
Zornitza Stark gene: POLR3C was added gene: POLR3C was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3C were set to 28783042 Phenotypes for gene: POLR3C were set to Severe VZV infection Review for gene: POLR3C was set to AMBER Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants. Sources: Expert list |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | POLR3A |
Zornitza Stark gene: POLR3A was added gene: POLR3A was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3A were set to 28783042; 29728610 Phenotypes for gene: POLR3A were set to Severe VZV infection Review for gene: POLR3A was set to AMBER Added comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported. Sources: Expert list |
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