Monogenic hearing loss
Gene: MARVELD2New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#610153:Deafness, autosomal recessive 49[Deafness, prelingual, profound (affects all frequencies)]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:44 p.m.
Publications for MARVELD2 were set to PMID:16365161; 17186462; 18084694
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MARVELD2 was changed to BIALLELIC, autosomal or pseudoautosomal
MARVELD2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene MARVELD2 was changed to BIALLELIC, autosomal or pseudoautosomal
MARVELD2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene MARVELD2 was changed to BIALLELIC, autosomal or pseudoautosomal
MARVELD2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene MARVELD2 was changed to BIALLELIC, autosomal or pseudoautosomal
MARVELD2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
MARVELD2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert