Hereditary spastic paraplegia - adult onsetGene: SLC16A2
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
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.
Several publications in unrelated families with spasticity as clinicsl feature. In sheffields HSP panel. Victoria: GREEN
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Allan-Herndon-Dudley syndrome, 300523, XL
Publications for gene: SLC16A2 were set to
Source Yorkshire and North East GLH was added to SLC16A2.
Source Expert Review Green was added to SLC16A2. Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SLC16A2.
gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC16A2 was set to