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Arthrogryposis

Gene: DES

Red List (low evidence)

DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 16 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: No clear association with arthrogryposis
Created: 4 Jan 2017, 10:57 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • myofibrillar myopathy
  • Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325
  • Myofibrillar Myopathy, Dominant
OMIM
125660
Clinvar variants
Variants in DES
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.

4 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).

4 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: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DES was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DES was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DES was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DES was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DES was added to Arthrogryposispanel. Sources: Expert list