SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1
OMIM: 614982, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SMCHD1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bosma arhinia microphthalmia syndrome (MIM#603457)
  • Arhinia, choanal atresia, microphthalmia MONDO:0011323

Green SMCHD1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bosma arhinia microphthalmia syndrome, MIM 603457
  • Arhinia, choanal atresia, microphthalmia MONDO:0011323
  • Fascioscapulohumeral muscular dystrophy 2, digenic

Red SMCHD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bosma arhinia microphthalmia syndrome, OMIM #603457
  • Fascioscapulohumeral muscular dystrophy 2, digenic
  • OMIM #158901

Green SMCHD1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Facioscapulohumeral muscular dystrophy MONDO:0001347

    Green SMCHD1 in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bosma arhinia microphthalmia syndrome, MIM# 603457
    • Arhinia, choanal atresia, microphthalmia MONDO:0011323

    Green SMCHD1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Bosma arhinia microphthalmia syndrome (MIM#603457)