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Primary immunodeficiency


Red List (low evidence)

MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

One of the 25 top novel PID-associated genes in a large-cohort WGS analysis, using BeviMed assessment of enrichment for candidate disease-causing variants in individual genes (
Created: 26 May 2020, 8:36 a.m. | Last Modified: 26 May 2020, 8:36 a.m.
Panel Version: 2.175

Mode of inheritance

primary immunodeficiency



History Filter Activity

26 May 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MTPAP was added gene: MTPAP was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MTPAP was set to Unknown Phenotypes for gene: MTPAP were set to primary immunodeficiency