Fetal hydrops
Gene: DOK7
DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 8 panels
1 review
Zornitza Stark (Australian Genomics)
Two unrelated families reported with fetal akinesia deformation sequence, hydrops is a feature. The gene also causes a less severe phenotype (congenital myasthenic syndrome 10), hydrops is not a feature of this.
Sources: Expert listCreated: 30 Dec 2019, 5:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia sequence, MIM#618389
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Fetal akinesia sequence, MIM#618389
- OMIM
- 610285
- Clinvar variants
- Variants in DOK7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: DOK7 was added gene: DOK7 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 31880392; 19261599 Phenotypes for gene: DOK7 were set to Fetal akinesia sequence, MIM#618389 Review for gene: DOK7 was set to AMBER gene: DOK7 was marked as current diagnostic