Adult onset hereditary spastic paraplegia

Gene: NKX6-2

The 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

• 28969374
• 29388673
• 28575651
• 31509304
• 32004679
• 32246862

Red List (low evidence)

Childhood onset.

Created: 22 Sep 2020, 5:14 a.m. | Last Modified: 22 Sep 2020, 5:14 a.m.

Panel Version: 1.7

I don't know

Childhood onset. Not reported as adult onset.

Created: 9 May 2019, 6:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 28575651
• 15601927
• 29388673

I don't know

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.

Green List (high evidence)

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

Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560