Fetal hydrops

Gene: MVK

No list

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 21 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Reports of severe prenatal presentations with hydrops for this metabolic condition.
Sources: Expert list
Created: 30 Dec 2019, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mevalonic aciduria, MIM#610377

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: MVK was added gene: MVK was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27012807 Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377 Review for gene: MVK was set to GREEN gene: MVK was marked as current diagnostic