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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 | GIMAP6 | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes. Therefore, there is only enough evidence for a Red rating at present.; to: Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes (PMID: 33328581). Therefore, there is only enough evidence for a Red rating at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 | GIMAP6 | Arina Puzriakova Classified gene: GIMAP6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 | GIMAP6 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes. Therefore, there is only enough evidence for a Red rating at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 | GIMAP6 | Arina Puzriakova Gene: gimap6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 | GIMAP6 |
Boaz Palterer gene: GIMAP6 was added gene: GIMAP6 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIMAP6 were set to 33328581 Phenotypes for gene: GIMAP6 were set to Lymphopenia; Sinopulmonary Infections Penetrance for gene: GIMAP6 were set to unknown Review for gene: GIMAP6 was set to RED Added comment: Two siblings with an homozygous variant in GIMAP6 and absent protein expression. One with lymphopenia and recurrent sinopulmonary infections, the other clinically asymptomatic. Sources: Literature |
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