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Hearing loss

Gene: USP48

Red List (low evidence)

USP48 (ubiquitin specific peptidase 48)
EnsemblGeneIds (GRCh38): ENSG00000090686
EnsemblGeneIds (GRCh37): ENSG00000090686
OMIM: 617445, Gene2Phenotype
USP48 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Conference talk/abstract from ESHG2020 - C06.2 - Whole Exome Sequencing, Molecular Assays, Immunohistology and Animal Models associate USP48 to Hereditary Hearing Loss - Bassani et al. Report 1 large Italian family, and 2 unrelated Dutch families with non-syndromic hearing loss and potentially pathogenic missense variants in USP48. A 4th case with unilateral cochlear nerve aplasia and a de novo splice variant in the same gene is reported. A zebrafish knockout for the USP48 paralog showed delayed primary motoneurons development and behaviour indicative of vestibular dysfunction and hearing impairment and acoustic startle response assays revealed a reduced auditory response.
No publication relating to this work could be found in PubMed at this time.
Sources: Literature
Created: 12 Jun 2020, 8 p.m. | Last Modified: 13 Jun 2020, 7:24 a.m.
Panel Version: 2.19

Mode of inheritance
Unknown

Phenotypes
non-syndromic hearing loss

Details

Mode of Inheritance
Unknown
Sources
  • Literature
Phenotypes
  • non-syndromic hearing loss
Tags
watchlist
OMIM
617445
Clinvar variants
Variants in USP48
Penetrance
None
Panels with this gene

History Filter Activity

23 Jun 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: USP48.

12 Jun 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: USP48 was added gene: USP48 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: USP48 was set to Unknown Phenotypes for gene: USP48 were set to non-syndromic hearing loss Review for gene: USP48 was set to RED