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 9.4
Latest signed off version: v9.0 (12 Aug 2026)

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 10.5
    Latest signed off version: v10.0 (12 Aug 2026)

    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 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

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


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 7.2
    Latest signed off version: v7.1 (12 Aug 2026)

    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