FGF14:Ensemblv90

fibroblast growth factor 14
OMIM: 601515, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green FGF14 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 27, MIM# 609307
  • Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003

Green FGF14 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green FGF14 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Spinocerebellar ataxia 27, MIM# 609307
  • Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003

Green FGF14 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia type 27, 609307
    • Spinocerebellar ataxia 27

    Green FGF14 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 27 MIM#609307

    Green FGF14 in Episodic Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.2

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Episodic Ataxia type 9

    Green FGF14 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green FGF14 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 27, MIM# 609307
    • Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003

    Green FGF14 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Literature
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia type 27, 609307
    • Spinocerebellar ataxia 27

    Green FGF14 in Episodic Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Episodic Ataxia type 9

    Green FGF14_SCA27B_GAA STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia type 27B MONDO:0012247
    • Spinocerebellar ataxia 50
    • late-onset cerebellar ataxias (LOCAs)

    Green FGF14_SCA27B_GAA STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia type 27B MONDO:0012247
    • Spinocerebellar ataxia 50
    • late-onset cerebellar ataxias (LOCAs)

    Green FGF14_SCA27B_GAA STR in Repeat Disorders


    Version 0.269

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia type 27B MONDO:0012247
    • Spinocerebellar ataxia 50
    • late-onset cerebellar ataxias (LOCAs)