LZTR1

leucine zipper like transcription regulator 1
OMIM: 600574, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red LZTR1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Noonan syndrome 2, MIM#605275

Green LZTR1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac defects
  • hypertrophic cardiomyopathy
  • atrial septal defect
  • pulmonary stenosis
  • short stature
  • intellectual disabilities

Green LZTR1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 10
  • Noonan syndrome 2
  • {Schwannomatosis-2, susceptibility to}

Green LZTR1 in Incidentalome


Version 0.314

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green LZTR1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green LZTR1 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.105

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 10
  • Noonan syndrome 2

Green LZTR1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green LZTR1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Noonan syndrome 10, MIM#616564
  • Noonan syndrome 2, MIM#605275

Green LZTR1 in Lymphoedema_syndromic

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 0.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Schwannomatosis-2, susceptibility to 615670
    • Noonan syndrome 10 616564

    Green LZTR1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert List
    • NHS GMS
    Phenotypes
    • Schwannomatosis-2, susceptibility to 615670
    • Noonan syndrome 10 616564

    Green LZTR1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green LZTR1 in Growth failure


    Version 1.76

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 10
    • Noonan syndrome 2

    Green LZTR1 in Fetal anomalies


    Version 1.314

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Noonan syndrome 10, MIM#616564
    • Noonan syndrome 2, MIM#605275
    • Fetal hydrops

    Green LZTR1 in Schwannoma


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Schwannoma, MONDO:0002546
    • Schwannomatosis 2, MONDO:0014299
    • Schwannomatosis, susceptibility to, 2, MIM#615670