SKI

SKI proto-oncogene
OMIM: 164780, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green SKI in ClinGen Gene Validity Curations


Version 0.65

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Shprintzen-Goldberg syndrome
  • OrphaNet ORPHA2462
  • OMIM182212
Red SKI in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Green SKI in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Shprintzen-Goldberg syndrome, OMIM:182212
Green SKI in Thoracic aortic aneurysm or dissection (GMS)


Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
  • Shprintzen-Goldberg syndrome (182212)
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Green SKI in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
  • Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
  • Shprintzen-Goldberg syndrome (182212)
Green SKI in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.7
Latest signed off version: v6.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Shprintzen-Goldberg syndrome 182212
Green SKI in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Shprintzen-Goldberg syndrome 182212
    Green SKI in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Shprintzen-Goldberg syndrome, OMIM:182212
    Green SKI in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
    Green SKI in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Shprintzen-Goldberg syndrome 182212
    • 182212
    Green SKI in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
    Green SKI in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
    • SGS
    Green SKI in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Shprintzen-Goldberg syndrome, 182212
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
    • SGS
    Green SKI in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Shprintzen-Goldberg syndrome, 182212