Ocular colobomaGene: SHH
Only reported in a few patients. Recognised on G2P as causing coloboma
Created: 16 Nov 2016, 12:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microphthalmia with coloboma 5, 611638
Promoted to version 1 on 6th February 2016 by Alice Gardham
SHH was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen