Malformations of cortical developmentGene: ACTB
Comment when marking as ready: Recognised on G2P
Created: 15 Dec 2016, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
ACTB was added to Malformations of cortical developmentpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
ACTB was added to Malformations of cortical developmentpanel. Sources: Expert Review
ACTB was created by Ushak