SCNM1:Ensemblv90

sodium channel modifier 1
OMIM: 608095, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SCNM1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.96

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XIX, MIM# 620107

Green SCNM1 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XIX, MIM# 620107

Green SCNM1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.297

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XIX, MIM# 620107

    Green SCNM1 in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XIX, MIM# 620107

    Green SCNM1 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Orofaciodigital syndrome XIX, MIM# 620107

    Green SCNM1 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Orofaciodigital syndrome XIX, MIM# 620107