Coarse facial features including Coffin-Siris-like disordersGene: RBMX
Comment when marking as ready: Only reported in one family
Created: 24 Nov 2016, 9:36 a.m.
Mutations only found in one family and no functional/cell studies were performed
Created: 31 Jan 2016, 1:47 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Shashi X-linked mental retardation syndrome, 300238
This gene has been classified as Red List (Low Evidence).
This proposed gene was validated and added to this panel
RBMX was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature
RBMX was created by alicegardham