Limb girdle muscular dystrophy

Gene: DOK7

Green List (high evidence)

DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 9 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 5:03 p.m. | Last Modified: 28 Nov 2019, 5:03 p.m.
Panel Version: 1.154
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 5:02 p.m. | Last Modified: 28 Nov 2019, 5:02 p.m.
Panel Version: 1.153

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: removed Fetal akinesia deformation sequence 1, 208150- the phenotype is related to variants in the gene MUSK not the gene DOK7
Created: 21 Oct 2019, 4:06 p.m. | Last Modified: 21 Oct 2019, 4:06 p.m.
Panel Version: 1.99

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

CMS gene, but clinically can present as LGMD
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap phenotype with LGMD
Created: 10 May 2019, 3:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; Limb-girdle muscular dystrophy

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 1, 208150

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Congenital myasthenic syndrome
  • Limb-girdle muscular dystrophy
OMIM
610285
Clinvar variants
Variants in DOK7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dok7 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dok7 has been classified as Green List (High Evidence).

21 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy to Congenital myasthenic syndrome; Limb-girdle muscular dystrophy

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DOK7.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DOK7.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: DOK7 Publications for gene DOK7 were changed from to 19261599

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DOK7 was added gene: DOK7 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: DOK7 was set to