Fetal hydrops
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
2 reviews
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)Created: 11 Apr 2024, 4:02 p.m. | Last Modified: 11 Apr 2024, 4:02 p.m.
Panel Version: 1.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Zornitza Stark (Australian Genomics)
Reports of severe prenatal presentations with hydrops for this metabolic condition.
Sources: Expert listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mosaic skin disorders - deep sequencing
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- COVID-19 research
- Periodic fever syndromes
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Mevalonic aciduria, MIM#610377 to Mevalonic aciduria, OMIM:610377
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