Monogenic hearing loss
Gene: PDSS1

PDSS1 (decaprenyl diphosphate synthase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Reviews copied from Optic neuropathy panel (Version 2.35).

"Two families reported where optic atrophy and deafness are part of the phenotype. Sources: Literature
Zornitza Stark (Australian Genomics), 1 Feb 2021"

"Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there are only 2 cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Ivone Leong (Genomics England Curator), 9 Feb 2021"
Sources: Literature
Created: 11 Feb 2021, 11:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 2, OMIM:614651

Publications

Created: 11 Feb 2021, 11:18 a.m.

Panel version: 2.147

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Coenzyme Q10 deficiency, primary, 2, OMIM:614651

Tags

watchlist

OMIM

607429

Clinvar variants

Variants in PDSS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pdss1 has been classified as Amber List (Moderate Evidence).

11 Feb 2021, Gel status: 1

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