Hereditary ataxia with onset in adulthood
Gene: PLA2G6
On Oxford and Sheffield panels. 164 DM in HGMD. Cerebellar atrophy and ataxia are HPO terms associated with PLA2G6.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.
Lots of reports in the literature - associated with a spectrum of disease, INAD at one end and Parkinson disease at the otherCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1, 256600, Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive Parkinson disease 14, 612953
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to PLA2G6.
Added phenotypes Autosomal recessive Parkinson disease 14, 612953; Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Source NHS GMS was added to PLA2G6.
Source Wessex and West Midlands GLH was added to PLA2G6.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217)