Cerebellar hypoplasiaGene: FKRP
Cerebellar abnormalities are a feature of MEB disease
Created: 16 Nov 2016, 9:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
22/02/2017: Panel revised after internal clinical review and further curation.
Publications for FKRP were set to 15121789
Mode of inheritance for FKRP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FKRP was created by ellenmcdonagh
FKRP was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN