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STRs in panel
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Primary immunodeficiency

Gene: MR1

Red List (low evidence)

MR1 (major histocompatibility complex, class I-related)
EnsemblGeneIds (GRCh38): ENSG00000153029
EnsemblGeneIds (GRCh37): ENSG00000153029
OMIM: 600764, Gene2Phenotype
MR1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Boaz Palterer (University of Florence)

Red List (low evidence)

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
Created: 11 Mar 2021, 11:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warts, bacterial infections, MAIT cells deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Warts, bacterial infections, MAIT cells deficiency
OMIM
600764
Clinvar variants
Variants in MR1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mr1 has been classified as Red List (Low Evidence).

11 Mar 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

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