Primary immunodeficiencyGene: MR1
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.
Created: 6 Apr 2021, 10:03 a.m. | Last Modified: 6 Apr 2021, 10:03 a.m.
Panel Version: 2.409
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.
Created: 11 Mar 2021, 11:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Warts, bacterial infections, MAIT cells deficiency
Gene: mr1 has been classified as Red List (Low Evidence).
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