Hereditary spastic paraplegia - adult onsetGene: B4GALNT1
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 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 panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 26, autosomal recessive, 609195
Publications for gene: B4GALNT1 were set to
Source Yorkshire and North East GLH was added to B4GALNT1.
Source Expert Review Green was added to B4GALNT1. Mode of inheritance for gene B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to B4GALNT1.
gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: B4GALNT1 was set to