Hereditary ataxia with onset in adulthood
Gene: GRID2
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 lit for AR, path variants fequently include large deletions so CNV calling a must. Regarding AD, three families with missense variant reported (2x de novo affecting same amino acid). We also have one de novo within our own patient cohort. Green for AD and ARCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 18, 616204
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2
Source NHS GMS was added to GRID2.
Source Wessex and West Midlands GLH was added to GRID2.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
gene: GRID2 was added gene: GRID2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 25841024 Phenotypes for gene: GRID2 were set to Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.