Childhood onset hereditary spastic paraplegia
Gene: FA2H
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 35, autosomal recessive, 611026
onset in childhood of SPG35Created: 14 Jan 2019, 4:51 p.m.
Publications for gene: FA2H were set to 19068277
Source Yorkshire and North East GLH was added to FA2H.
Source NHS GMS was added to FA2H.
Source London North GLH was added to FA2H.
Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Arianna Tucci: onset in childhood of SPG35
Publications for gene: FA2H were set to Edvardson et al. (2008)
Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive to Spastic paraplegia 35, autosomal recessive, 612319
gene: FA2H was added gene: FA2H was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to Edvardson et al. (2008) Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive