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 1.12

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 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 1.477

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
Amber SEPT9 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • AMYOTROPHY, HEREDITARY NEURALGIC
    • HNA
    Tags
    • new-gene-name
    Green SEPT9 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    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 1.184

    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