DSTYK

dual serine/threonine and tyrosine protein kinase
OMIM: 612666, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green DSTYK in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.113

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805

    Red DSTYK in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.295

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • Spastic paraplegia 23, 270750
    Tags
    • founder-effect

    Amber DSTYK in Hereditary spastic paraplegia - childhood onset


    Version 2.144
    Latest signed off version: v2.18 (8 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Other
    Phenotypes
    • Spastic paraplegia 23, 270750
    • ongenital anomalies of kidney and urinary tract 1, 610805, AD
    • Spastic paraplegia 23, 270750, AR

    Amber DSTYK in Hereditary spastic paraplegia - adult onset


    Version 1.102
    Latest signed off version: v1.27 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 23, 270750, AR
    • Spastic paraplegia 23, 270750
    • Congenital anomalies of kidney and urinary tract 1, 610805, AD

    Green DSTYK in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.169

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Renal hypodysplasia
    • ureteropelvic junction obstruction
    • vesicoureteric reflux
    • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
    • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805

    Green DSTYK in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Renal hypodysplasia
    • {Congenital anomalies of kidney and urinary tract, susceptibility to}
    • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
    • ureteropelvic junction obstruction
    • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
    • vesicoureteric reflux

    Red DSTYK in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spastic paraplegia 23, 270750
    Tags
    • founder-effect

    Green DSTYK in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1

    Green DSTYK in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
    • Autosomal Recessive Complicated Spastic Paraparesis SPG23
    Tags
    • watchlist

    Red DSTYK in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 23, 270750
    • Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).

    Red DSTYK in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • {Congenital anomalies of kidney and urinary tract, susceptibility
    • to}, 610805

    Red DSTYK in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
    • Spastic paraplegia 23, 270750

    Green DSTYK in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 23, 270750
    • Congenital anomalies of kidney and urinary tract 1, 610805