Hereditary ataxia - adult onsetGene: EIF2B1
In Sheffield panel. 9 DM in HGMD. Phenotype fits with ataxia.
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.
Multiple reports in literature - frequently associated with death in infancy
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leukoencephalopathy with vanishing white matter, 603896
Source London North GMS was added to EIF2B1.
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Source NHS GMS was added to EIF2B1.
Source Wessex and West Midlands GLH was added to EIF2B1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: EIF2B1 was added gene: EIF2B1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease