LMNA

[pnrobinson]

Remove Barthelemy (atypical course which muddies the waters) @ielis -- make copy if need be.

[pnrobinson]

Remove Novelli since it is one patient. with incomplete clinical description @ielis

[pnrobinson]

Remove Patni (it is a novel syndrome not yet listed in OMIM) @ielis

[pnrobinson]

Remove Simha (it is a mixed phenotype that does not match exactly with existing OMIM identifiers). There are quite a few of these kinds of case reports but it is hard now to know what to do with them and the clinical descriptions are heterogeneous and perhaps best left for a separate study. @ielis

[pnrobinson]

@ielis remove Van Esch -- a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. (see above comment)

Remove Zirn -- same comment

[pnrobinson]

@ielis I would also tend to remove Wiltshire, since only one individual is described in detail, which necessarily adds to apparent hetergeneity (no way to know)

[pnrobinson]

We have the following diseases

• Cardiomyopathy, dilated, 1A 115200 AD 3
• Emery-Dreifuss muscular dystrophy 2, autosomal dominant 181350 AD 3
• Hutchinson-Gilford progeria 176670 AD 3
• Lipodystrophy, familial partial, type 2

We have over 10 individuals for each disease except the last (I have reached out to two authors of large cohorts for the last). I would suggest we delete the rest, since it is hard to judge the effects with small groups of other diseases (e.g., Emery-Dreifuss recessive). Please save the files in data elsewhere, and we should remove them for now from here!

[ielis]

Hi, thanks a lot for the phenopackets! I'll add these into the pipeline.

[pnrobinson]

I still need to fix a few minor errors and export the final LMNA phenopackets. If you are ok, I will delete the files and will be adding more cohorts of LMNA this week.

[ielis]

Yes, please go forward with deleting the files and adding more LMNA cohorts.

[pnrobinson]

done