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 1.89

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 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - 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 Ataxia and cerebellar anomalies - narrow panel


    Version 2.239
    Latest signed off version: v2.23 (8 Oct 2020)

    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 1.244

    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 1.141

    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 1.259

    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 Hereditary spastic paraplegia - childhood onset


    Version 2.84
    Latest signed off version: v2.18 (8 Oct 2020)

    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

    Green NKX6-2 in Hereditary spastic paraplegia - adult onset


    Version 1.73
    Latest signed off version: v1.27 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
    Tags
    • Q3_21_phenotype

    Red NKX6-2 in Neurodegenerative disorders - adult onset


    Version 2.200
    Latest signed off version: v2.178 (5 Aug 2021)

    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 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Amber NKX6-2 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Progressive Spastic Ataxia and Hypomyelination

    Green NKX6-2 in Hereditary ataxia - adult onset


    Version 2.88
    Latest signed off version: v2.13 (6 Oct 2020)

    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 movement disorder


    Version 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    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 or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.84

    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