1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. SMCHD1
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: SMCHD1

Red List (low evidence)
SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000101596
EnsemblGeneIds (GRCh37): ENSG00000101596
OMIM: 614982, Gene2Phenotype
SMCHD1 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review. It is a possible DD gene for Fascioscapulohumeral muscular dystrophy 2, digenic.
Created: 19 Dec 2016, 1:17 p.m.
Created: 19 Dec 2016, 1:17 p.m.

Copied from panel: Congenital muscular dystrophy v3.85

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.85

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901
OMIM
614982
Clinvar variants
Variants in SMCHD1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: SMCHD1 was added gene: SMCHD1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: SMCHD1 was set to Other Phenotypes for gene: SMCHD1 were set to Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 Penetrance for gene: SMCHD1 were set to Complete