Hereditary spastic paraplegia - adult onsetGene: NKX6-2
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.
3 unrelated consanguineous families with spastic ataxia-8 reported-North Indian, Kenyan/Tanzanian-haplotype analysis indicated a founder effect, Saudi Arabian
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Publications for gene: NKX6-2 were set to
Source Yorkshire and North East GLH was added to NKX6-2.
Source Expert Review Green was added to NKX6-2. Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to NKX6-2.
gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NKX6-2 was set to