Potential error in phenotype mapping

Community Feedback
1

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:

Phenotypes

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

MPD

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.

2

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.

Regards,
Prashant

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3

Hi @Jacob_Degner,

Thank you for your feedback! This issue was resolved in our latest release (out today!).

4

Fantastic team work!!

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