Hereditary ataxia with onset in adulthood
Gene: PNPLA6
In Oxford and Sheffield panels. 53 DM on HGMD of which 6 cause cerebellar ataxia (Boucher-Neuhuser syndrome). Likely overlap with HSP panel is justified.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.
Associated with a spectrum of disease, all associated with cerebellar abnormalities and/or ataxiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome, 275400, Sapstic paraplegia 39, 612020
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to PNPLA6.
Added phenotypes Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Source NHS GMS was added to PNPLA6.
Source Wessex and West Midlands GLH was added to PNPLA6.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Oliver-McFarlane syndrome (#603197)