Potential error in phenotype mapping

This page suggests a link between chronic myeloproliforative disorders and IGF1. Further inspection suggests there is no link to myeloproliforative disorders. (https://platform.opentargets.org/evidence/ENSG00000017427/EFO_0002428)

The source is GEL PanelApp (Severe Microcephaly) for which the phenotypes listed for IGF1 are:


Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747


microcephalic primordial dwarfism

I think the error is coming from the abbreviated phenotype MPD which in this case means “microcephalic primordial dwarfism”. However, MPD is also listed a synonym of Chronic myeloproliferative disorder (https://platform.opentargets.org/disease/EFO_0002428). My guess is that this is the source of the aberrant link.

Hi Jacob,

Thank you for reaching out to us with your query!

You are correct in your observation. Since GEL PanelApp lists MPD as a phenotype for IGF1, and as MPD is a synonym of Chronic myeloproliferative disorder, this is causing an incorrect evidence to exist for IGF1 in Chronic myeloproliferative disorder.

We will liaise with Genomics England PanelApp to remove MPD as a phenotype for IGF1 to resolve this error. You can track the status of this issue here.