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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 | TOM1 | Arina Puzriakova Classified gene: TOM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 | TOM1 | Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but currently only a single family reported. Therefore, rating Red awaiting additional cases/clinical evidence to validate pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 | TOM1 | Arina Puzriakova Gene: tom1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 | TOM1 | Arina Puzriakova reviewed gene: TOM1: Rating: ; Mode of pathogenicity: None; Publications: 31263572; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | TOM1 |
Boaz Palterer gene: TOM1 was added gene: TOM1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOM1 were set to 31263572 Phenotypes for gene: TOM1 were set to early-onset autoimmunity; antibody deficiency; combined immunodeficiency; primary immunodeficiency Penetrance for gene: TOM1 were set to unknown Review for gene: TOM1 was set to RED Added comment: Sources: Literature |
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