Childhood onset hereditary spastic paraplegia
Gene: B4GALNT1
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.
Victoria: Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. Exome sequencing of 5 families identified 5 different homozygous mutations. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
Spastic paraplegia 26, Onset in first or second decades of lifeCreated: 14 Jan 2019, 4:17 p.m.
Publications for gene: B4GALNT1 were set to 23746551
Source Yorkshire and North East GLH was added to B4GALNT1.
Source NHS GMS was added to B4GALNT1.
Source London North GLH was added to B4GALNT1.
Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Arianna Tucci: Spastic paraplegia 26, Onset i
Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to Boukhris et al. (2013) Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive