Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DOK7EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 8 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 DOK7Created: 21 Oct 2019, 4:06 p.m. | Last Modified: 21 Oct 2019, 4:06 p.m.
Panel Version: 1.99
Chiara Marini Bettolo (NUTH)
CMS gene, but clinically can present as LGMDCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap phenotype with LGMDCreated: 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)
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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dok7 has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dok7 has been classified as Green List (High Evidence).
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DOK7.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to DOK7.
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
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
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