Adult onset hereditary spastic paraplegia
Gene: ZFYVE26
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.
8 families with autosomal recessive spastic paraplegia-15 identified 6 different homozygous mutations in the ZFYVE26 gene. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 15, autosomal recessive, 270700
Publications for gene: ZFYVE26 were set to
Source Yorkshire and North East GLH was added to ZFYVE26.
Source Expert Review Green was added to ZFYVE26. Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ZFYVE26.
gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ZFYVE26 was set to