Congenital muscular dystrophy

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 9 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.

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901

Details

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

History Filter Activity

27 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SMCHD1 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SMCHD1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMCHD1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen