SCNM1

sodium channel modifier 1
OMIM: 608095, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber SCNM1 in Limb disorders


Level 2: Musculoskeletal
Version 7.29
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XIX, OMIM:620107
    • orofaciodigital syndrome 19, MONDO:0859310
    Tags
    • Q2_26_promote_green
    Amber SCNM1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.46
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XIX, OMIM:620107
    • orofaciodigital syndrome 19, MONDO:0859310
    Tags
    • Q2_26_promote_green
    Green SCNM1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.189
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Orofaciodigital syndrome XIX
    • OMIM:620107
    Red SCNM1 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • SCNM1-associated orofaciodigital syndrome
    Amber SCNM1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.382
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XIX, OMIM:620107
    • orofaciodigital syndrome 19, MONDO:0859310
    Tags
    • Q2_26_promote_green
    Amber SCNM1 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.12
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XIX, OMIM:620107
    • orofaciodigital syndrome 19, MONDO:0859310
    Tags
    • Q2_26_promote_green