Hereditary ataxia with onset in adulthood
Gene: ELOVL4
In Sheffield panel. 12 DM in HGMD - 4 with an ataxia phenotype. Overlap with eye disorders (macular degeneration).Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Also associated with AD Stargardt (LoF) and AR Ichthyosis, spastic quafriplegia and MR. Looks like at least four families in lit (two share the same variant) with SCA34 variants (Missense)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 34, 133190
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Source London North GMS was added to ELOVL4.
Added phenotypes Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Source NHS GMS was added to ELOVL4.
Source Wessex and West Midlands GLH was added to ELOVL4.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ELOVL4 was added gene: ELOVL4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190