Vici Syndrome and other autophagy disordersGene: MLPH
Comment on list classification: Radboud notes that mutations in this gene are linked with Griscelli syndrome type 3. This is further supported by evidence from a literature paper, which cites 4 unrelated cases of Griscelli syndrome type 3, although some patients has parental consanguinity.
Created: 19 Jun 2017, 2:37 p.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Publications for MLPH were set to 26927810; 22711375
This gene has been classified as Green List (High Evidence).
MLPH was created by ellenmcdonagh
MLPH was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature