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Arthrogryposis

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

3 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis
Created: 5 Jan 2017, 10:25 a.m.

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

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMCHD1 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,,Expert Review Red

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SMCHD1 was created by ellenmcdonagh