Adult onset hereditary spastic paraplegia
Gene: NKX6-2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - onset between birth and age five years, with spasticity being an early presenting feature
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 19 Aug 2021, 3:51 p.m. | Last Modified: 19 Aug 2021, 3:51 p.m.
Panel Version: 1.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
Publications
Childhood onset.Created: 22 Sep 2020, 5:14 a.m. | Last Modified: 22 Sep 2020, 5:14 a.m.
Panel Version: 1.7
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 ArabianCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Tag Q3_21_phenotype was removed from gene: NKX6-2.
Source Expert Review Amber was added to NKX6-2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: NKX6-2.
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