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COVID-19 research

Gene: MTPAP

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 (https://doi.org/10.1101/499988).
Created: 19 May 2020, 3:54 p.m. | Last Modified: 19 May 2020, 3:54 p.m.
Panel Version: 0.260

Mode of inheritance
Unknown

Phenotypes
primary immunodeficiency

Publications

  • https://doi.org/10.1101/499988

History Filter Activity

19 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: MTPAP was added gene: MTPAP was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: MTPAP was set to Unknown