Hereditary spastic paraplegia, childhood onset
Gene: NKX6-2EnsemblGeneIds (GRCh38): ENSG00000148826
EnsemblGeneIds (GRCh37): ENSG00000148826
OMIM: 605955, Gene2Phenotype
NKX6-2 is in 14 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
3 unrelated consanguineous families with spastic ataxia-8 reported-North Indian, Kenyan/Tanzanian-haplotype analysis indicated a founder effect, Saudi ArabianCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Arianna Tucci (Genomics England Curator)
Onset in the first year of lifeCreated: 14 Jan 2019, 5:16 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
- Expert Review Green
- Phenotypes
-
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
- OMIM
- 605955
- Clinvar variants
- Variants in NKX6-2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Fetal anomalies
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia, childhood onset
- Inherited white matter disorders
- Hereditary ataxia
- Hereditary ataxia, adult onset
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NKX6-2 were set to 15601927; 28575651
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NKX6-2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NKX6-2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to NKX6-2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset in the first year of lif
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 15601927; 28575651 Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560