Hereditary spastic paraplegia - adult onset

Gene: NKX6-2

Green List (high evidence)

NKX6-2 (NK6 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000148826
EnsemblGeneIds (GRCh37): ENSG00000148826
OMIM: 605955, Gene2Phenotype
NKX6-2 is in 15 panels

4 reviews

Zornitza Stark (Australian Genomics)

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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

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

Louise Daugherty (Genomics England Curator)

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

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

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NKX6-2 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to NKX6-2.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NKX6-2.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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