Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DOK7Comment 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
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 1, 208150
Publications
Gene: dok7 has been classified as Green List (High Evidence).
Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: dok7 has been classified as Green List (High Evidence).
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
Source NHS GMS was added to DOK7.
Source Yorkshire and North East GLH was added to DOK7.
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
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
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