Deafness_Isolated
Gene: MARVELD2

MARVELD2 (MARVEL domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000152939
EnsemblGeneIds (GRCh37): ENSG00000152939
OMIM: 610572, Gene2Phenotype
MARVELD2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 affected individuals reported, supportive mouse model. DEFINITIVE by ClinGen.
Created: 30 Sep 2020, 10:41 p.m. | Last Modified: 30 Sep 2020, 10:41 p.m.

Panel Version: 0.499

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 49, MIM# 610153

Publications

Created: 30 Sep 2020, 10:41 p.m.
Last Modified: 30 Sep 2020, 10:41 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.499

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 49, MIM# 610153

OMIM

610572

Clinvar variants

Variants in MARVELD2

Penetrance

None

Publications

Panels with this gene