1. Genes and Genomic Entities
  2. SMCHD1

SMCHD1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red SMCHD1 in Congenital muscular dystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Other
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901
    Red SMCHD1 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
    Green SMCHD1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901
    • facioscapulohumeral muscular dystrophy 2, MONDO:0008031
    Tags
    • digenic
    Green SMCHD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Isolated Arhinia/Bosma Arhinia syndrome
    Green SMCHD1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Isolated Arhinia/Bosma Arhinia syndrome
    Red SMCHD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
    Green SMCHD1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
    Green SMCHD1 in Facioscapulohumeral muscular dystrophy - extended testing


    Level 2: Neurology
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Facioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901
    • facioscapulohumeral muscular dystrophy 2, MONDO:0008031
    Tags
    • digenic