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  3. DOK7
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Arthrogryposis

Gene: DOK7

Green List (high evidence)
DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 8 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Causes 10-15% of CMS which can be associated with arthrogryposis
Created: 4 Jan 2017, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 10 254300

Publications

Created: 4 Jan 2017, 11 a.m.

Panel version: 1.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Myasthenia, limb-girdle, familial, 254300
  • Fetal akinesia deformation sequence, 208150
OMIM
610285
Clinvar variants
Variants in DOK7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 May 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 to Myasthenia, limb-girdle, familial, 254300; Fetal akinesia deformation sequence, 208150

16 Jan 2017, Gel status: 4

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: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 3

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for DOK7 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for DOK7 were set to 16917026, 20301347

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DOK7 was added to Arthrogryposispanel. Source: UKGTN DOK7 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DOK7 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DOK7 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DOK7 was created by ellenmcdonagh