EP400 and FAM193B

[hdashnow]

Proposed in https://www.biorxiv.org/content/10.1101/2025.01.06.631535v2

[hdashnow]

If we decide to include them, we should ask Gianina Ravenscroft to check these, too.

[hdashnow]

We may need a way to categorize these loci differently from those with more evidence. For example a "provisional" category.
Key areas of support we could look for that could promote loci out of provisional:

• Additional unrelated affected individuals/families
• Association between allele length and severity, age of onset or phenotype
• Molecular evidence e.g. expression, methylation, cell or animal models

[laurelhiatt]

I like the word provisional. I'll try and have a checklist draft by the end of the week so we can apply it to provisional loci.

[hdashnow]

Credit to Steven Boyden for the "provisional" category suggestion!