Monogenic hearing loss
Gene: PDSS1
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: LiteratureCreated: 11 Feb 2021, 11:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 2, OMIM:614651
Publications
Gene: pdss1 has been classified as Amber List (Moderate Evidence).
gene: PDSS1 was added gene: PDSS1 was added to Hearing loss. Sources: Literature watchlist tags were added to gene: PDSS1. Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 33285023; 17332895 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, OMIM:614651 Review for gene: PDSS1 was set to AMBER