Limb girdle muscular dystrophy

Gene: SMCHD1

Amber List (moderate 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

6 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives. As this is digenic, this gene has been made Amber rather than Green and tagged 'digenic'.
Created: 28 Nov 2019, 4:17 p.m. | Last Modified: 29 Nov 2019, 10:34 a.m.
Panel Version: 1.184

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

FSHD2, differential diagnosis with LGMD.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap LGMD phenotype
Created: 10 May 2019, 3:38 p.m.
Digenic inheritance
Created: 10 May 2019, 2:17 p.m.

Mode of inheritance
Other

Phenotypes
fascioscapulohumeral muscular dystrophy

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 11:45 a.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Only if for ddx with FSHD
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
Other - please specifiy in evaluation comments

Phenotypes
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Digenic inheritance, SMCHD1 heterozygous mutation with permissive haplotype on DUX4. While WGS will not currently be able to fully diagnose FSHD2, detection of mutation in SCHMD1 will indicate that further testing is indicated. There is recognised clinical overlap between FSHD and LGMDs hence inclusion in this panel is indicated.
Created: 29 Mar 2019, 2:02 p.m.

Mode of inheritance
Other

Phenotypes
fascioscapulohumeral muscular dystrophy

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported which are digenic with permissive D4Z4 haplotype
Created: 26 Jul 2016, 1 p.m.
Comment on list classification: Digenic inheritance
Created: 26 Jul 2016, 1 p.m.
Comment on mode of inheritance: Digenic with permissive D4Z4 haplotype of DUX4, that segregates independently in families
Created: 26 Jul 2016, 12:57 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic 158901
  • fascioscapulohumeral muscular dystrophy
Tags
digenic
OMIM
614982
Clinvar variants
Variants in SMCHD1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: smchd1 has been classified as Amber List (Moderate Evidence).

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: smchd1 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag digenic tag was added to gene: SMCHD1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SMCHD1.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMCHD1.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SMCHD1.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SMCHD1 was changed to Other - please specifiy in evaluation comments

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SMCHD1 was created by sleigh

26 Jul 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SMCHD1 was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN