Hereditary ataxia with onset in adulthood
Gene: VLDLR
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.
Plenty of cases and variants in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 for gene: VLDLR
Source NHS GMS was added to VLDLR.
Source Wessex and West Midlands GLH was added to VLDLR.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
gene: VLDLR was added gene: VLDLR was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal