SEPT9

septin 9
OMIM: 604061, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SEPT9 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophy, hereditary neuralgic, MIM# 162100
Tags
  • SV/CNV
  • 5'UTR
  • founder
  • new gene name

Green SEPT9 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Amyotrophy, hereditary neuralgic, MIM# 162100
    • HMSN
    Tags
    • SV/CNV
    • 5'UTR
    • founder
    • new gene name

    Green SEPT9 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.34

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Amyotrophy, hereditary neuralgic, 162100
    • Hereditary neuralgic amyotrophy

    Green SEPT9 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Amyotrophy, hereditary neuralgic

    Amber SEPT9 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • HNA
    • Amyotrophy, hereditary neuralgic, MIM# 162100
    Tags
    • SV/CNV
    • 5'UTR
    • founder
    • new gene name

    Red SEPT9 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Amyotrophy, hereditary neuralgic, MIM# 162100