Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disordersGene: ASXL2
Associated with phenotype in OMIM and as a probable G2P. At least 6 variants reported in at least 6 unrelated cases.
Created: 19 Dec 2017, 4:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Shashi-Pena syndrome 617190
This gene has been classified as Green List (High Evidence).
ASXL2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders panel. Sources: Literature
ASXL2 was created by Sarah Leigh