PanelApp
  1. Genes and Genomic Entities
  2. SEPTIN9

SEPTIN9

septin 9
OMIM: 604061, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SEPTIN9 in Mendeliome


Version 2.49

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

Green SEPTIN9 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green SEPTIN9 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green SEPTIN9 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

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

    Amber SEPTIN9 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Red SEPTIN9 in Fetal anomalies


    Version 2.0

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