Fetal hydrops

Gene: DOK7

No list

DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

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 list
Created: 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

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