Childhood onset hereditary spastic paraplegia
Gene: PNPLA6
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 39, autosomal recessive, 612020
Onset of SPG39 usually in the first decadeCreated: 14 Jan 2019, 5:19 p.m.
Publications for gene: PNPLA6 were set to 18313024
Source Yorkshire and North East GLH was added to PNPLA6.
Source NHS GMS was added to PNPLA6.
Source London North GLH was added to PNPLA6.
Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6
Arianna Tucci: Onset of SPG39 usually in the
Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive to Spastic paraplegia 39, autosomal recessive, 612020
gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to Rainier et al. (2008) Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive