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Arthrogryposis

Gene: DMD

Red List (low evidence)

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Known to cause muscular dystrophy but no association with arthrogryposis
Created: 4 Jan 2017, 10:35 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045; Duchenne or Becker muscular dystrophy

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

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Arthrogryposispanel. Source: UKGTN DMD was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DMD was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DMD was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DMD was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Arthrogryposispanel. Sources: Expert list