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  3. DOK7
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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300.
Created: 25 Jul 2019, 8:12 a.m. | Last Modified: 25 Jul 2019, 8:12 a.m.
Panel Version: 0.313
This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype).
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:07 a.m.
Panel Version: 0.311
Created: 25 Jul 2019, 8:04 a.m.
Last Modified: 25 Jul 2019, 8:07 a.m.
Panel version: 0.311

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • ?Fetal akinesia deformation sequence 3, 618389
  • Myasthenic syndrome, congenital, 10, 254300
OMIM
610285
Clinvar variants
Variants in DOK7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

25 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DOK7 was added gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 30266093 Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300