DSTYK

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green DSTYK in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

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 1.316

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


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Neurology
Version 6.7
Latest signed off version: v6.0 (30 Apr 2025)

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 1.181

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
Red DSTYK in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 1.506

    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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    Amber DSTYK in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 23, autosomal recessive, OMIM:270750
    • hereditary spastic paraplegia 23, MONDO:0010046
    Tags
    • founder-effect
    Green DSTYK in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Congenital anomalies of kidney and urinary tract 1, OMIM:610805