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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 | MR1 | Arina Puzriakova Classified gene: MR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 | MR1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 32709702 who presented immunodeficiency and a homozygous MR1 variant (c.92G>A, p.Arg31His) supported by some functional data. Rating Red, awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 | MR1 | Arina Puzriakova Gene: mr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 | MR1 |
Boaz Palterer gene: MR1 was added gene: MR1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MR1 were set to 32709702 Phenotypes for gene: MR1 were set to Warts, bacterial infections, MAIT cells deficiency Penetrance for gene: MR1 were set to unknown Review for gene: MR1 was set to RED Added comment: Howson et al. describe a single patient with resistant warts and bacterial infections, with a homozygous MR1 variant (p.R9H) causing a selective MAIT cells deficiency. Sources: Literature |
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