Cerebellar hypoplasiaGene: KCNC3
Comment when marking as ready: Eligibility criteria. DD on G2P causing cerebellar ataxia. UKGTN inherited ataxias
Created: 3 Nov 2016, 11:27 a.m.
Mode of inheritance and phenotypes sourced from OMIM.
Created: 8 Jan 2016, 10:03 a.m.
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
KCNC3 was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Emory Genetics Laboratory,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene KCNC3 were set to Spinocerebellar ataxia 13
KCNC3 was added to Cerebellar hypoplasiapanel. Sources: Other
KCNC3 was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing
KCNC3 was created by ellenmcdonagh