Hereditary ataxia with onset in adulthood
Gene: KIF1C
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic ataxia 2, 611302
Publications for gene: KIF1C were set to
Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive; Autosomal recessive spastic ataxia 2, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302
Added phenotypes Autosomal recessive spastic ataxia 2, 611302 for gene: KIF1C
Source NHS GMS was added to KIF1C.
Source Wessex and West Midlands GLH was added to KIF1C.
Checked panel against panel constituents. Ready to promote to version 1.
gene: KIF1C was added gene: KIF1C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive