Fetal hydropsGene: DOK7
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
Fetal akinesia sequence, MIM#618389
Variants in this GENE are reported as part of current diagnostic practice
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