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  3. SMCHD1
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Facioscapulohumeral muscular dystrophy - extended testing

Gene: SMCHD1

Green List (high 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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #158901) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 11:53 p.m. | Last Modified: 17 Dec 2025, 11:53 p.m.
Panel Version: 1.2
SMCHD1 has been added to the panel for R345 Facioscapulohumeral muscular dystrophy - extended testing with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 12:52 p.m. | Last Modified: 30 Jun 2023, 12:52 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 30 Jun 2023, 12:52 p.m.
Last Modified: 30 Jun 2023, 12:52 p.m.
Panel version: 0.1

Details

Mode of Inheritance
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
OMIM
614982
Clinvar variants
Variants in SMCHD1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMCHD1 were changed from to Facioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901; facioscapulohumeral muscular dystrophy 2, MONDO:0008031

4 Jul 2023, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag digenic tag was added to gene: SMCHD1.

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMCHD1 was added gene: SMCHD1 was added to Facioscapulohumeral muscular dystrophy - extended testing. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown