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  2. Deafness_Isolated
  3. MVD
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Deafness_Isolated

Gene: MVD

Red List (low evidence)
MVD (mevalonate diphosphate decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000167508
EnsemblGeneIds (GRCh37): ENSG00000167508
OMIM: 603236, Gene2Phenotype
MVD is in 3 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Homozygous missense variant p.(Pro379His) identified in 2 affected siblings from a single consanguineous Pakistani family by WES. A third unaffected sibling was heterozygous for the variant. Variant is in gnomad (1 het, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Created: 2 Feb 2022, 12:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Feb 2022, 12:20 a.m.

Panel version: 1.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related
OMIM
603236
Clinvar variants
Variants in MVD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mvd has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mvd has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

gene: MVD was added gene: MVD was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: MVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVD were set to 34135477 Phenotypes for gene: MVD were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Review for gene: MVD was set to RED gene: MVD was marked as current diagnostic