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 1.118

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 1.311

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • Spastic paraplegia 23, 270750
    Tags
    • founder-effect
    Amber DSTYK in Childhood onset hereditary spastic paraplegia


    Version 4.42
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Adult onset hereditary spastic paraplegia


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

    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 1.175

    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 young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Adult onset neurodegenerative disorder


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

    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 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
    • Autosomal Recessive Complicated Spastic Paraparesis SPG23
    Red DSTYK in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    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 1.184

    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