Coarse facial features including Coffin-Siris-like disordersGene: LAMTOR2
Comment when marking as ready: Only reported in one family
Created: 23 Nov 2016, 10:47 a.m.
Reported in one family only
Created: 31 Jan 2016, 1:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Immunodeficiency due to defect in MAPBP-interacting protein
This gene has been classified as Red List (Low Evidence).
This proposed gene was validated and added to this panel
LAMTOR2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature
LAMTOR2 was created by alicegardham