Childhood onset hereditary spastic paraplegia
Gene: ZFYVE26
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.
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 5:14 p.m.
8 families with autosomal recessive spastic paraplegia-15 identified 6 different homozygous mutations in the ZFYVE26 gene. In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 15, autosomal recessive, 270700
Onset in infancyCreated: 25 Feb 2019, 11:19 a.m.
Source NHS GMS was added to ZFYVE26.
Source London North GLH was added to ZFYVE26.
Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Arianna Tucci: Onset at birth
Publications for gene: ZFYVE26 were set to Hanein et al. (2008)
Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive to Spastic paraplegia 15, autosomal recessive, 270700
gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to Hanein et al. (2008) Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive