SCNM1

sodium channel modifier 1
OMIM: 608095, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SCNM1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 19, MONDO:0859310

Green SCNM1 in Mendeliome


Version 2.588

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 19, MONDO:0859310

Green SCNM1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.20

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome 19, MONDO:0859310

    Green SCNM1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome 19, MONDO:0859310

    Green SCNM1 in Fetal anomalies


    Version 2.81

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome 19, MONDO:0859310