Malformations of cortical developmentGene: FKTN
Comment when marking as ready: Can be caused by insertion in 3' UTR
Created: 19 Dec 2016, 11:48 a.m.
Comment on mode of pathogenicity: Can be an insertion in the 3' UTR
Created: 19 Dec 2016, 11:47 a.m.
Recognised on G2P
Created: 19 Dec 2016, 11:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Mode of pathogenicity
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for FKTN was changed to Other - please provide details in the comments
FKTN was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
FKTN was created by agardham