Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: POP1

Red List (low evidence)

POP1 (POP1 homolog, ribonuclease P/MRP subunit)
EnsemblGeneIds (GRCh38): ENSG00000104356
EnsemblGeneIds (GRCh37): ENSG00000104356
OMIM: 602486, Gene2Phenotype
POP1 is in 5 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

single mutation report in literature
Created: 7 Feb 2016, 10:35 a.m.

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: POP1 was added gene: POP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: POP1 was set to Unknown