NKX6-2

NK6 homeobox 2
OMIM: 605955, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green NKX6-2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Green NKX6-2 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
    Green NKX6-2 in Ataxia and cerebellar anomalies - narrow panel


    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
    Green NKX6-2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
    Green NKX6-2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
    Green NKX6-2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
    Green NKX6-2 in Childhood onset hereditary spastic paraplegia


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    review 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
    Amber NKX6-2 in Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
    Red NKX6-2 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
    Amber NKX6-2 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Progressive Spastic Ataxia and Hypomyelination
    Green NKX6-2 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Progressive Spastic Ataxia and Hypomyelination
    Green NKX6-2 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
    Red NKX6-2 in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
    Green NKX6-2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
    Green NKX6-2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560