SEPT9

septin 9
OMIM: 604061, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SEPT9 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hereditary neuralgic amyotrophy
  • Amyotrophy, hereditary neuralgic, 162100
Tags
  • new-gene-name

Red SEPT9 in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Amyotrophy, hereditary neuralgic, 162100
  • Hereditary neuralgic amyotrophy
Tags
  • new-gene-name

Green SEPT9 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • Amyotrophy, hereditary neuralgic
  • Neuralgic amyotrophy
Tags
  • new-gene-name

Green SEPT9 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.20
Signed off v.2.2 on 4 Mar 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • AMYOTROPHY, HEREDITARY NEURALGIC
    • HNA
    Tags
    • new-gene-name

    Green SEPT9 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Amyotrophy, hereditary neuralgic
    • Neuralgic amyotrophy
    Tags
    • new-gene-name

    Green SEPT9 in Severe Paediatric Disorders


    Version 1.43

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukemia, acute myeloid, therapy-related
    • Amyotrophy, hereditary neuralgic, 162100
    • Ovarian carcinoma
    Tags
    • new-gene-name