Optic neuropathy
Gene: PDSS1Comment 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.Created: 9 Feb 2021, 11:57 a.m. | Last Modified: 9 Feb 2021, 11:57 a.m.
Panel Version: 2.35
Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: LiteratureCreated: 1 Feb 2021, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Publications
Tag watchlist tag was added to gene: PDSS1.
Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were changed from Coenzyme Q10 deficiency, primary, 2, MIM# 614651 to Coenzyme Q10 deficiency, primary, 2, OMIM:614651
gene: PDSS1 was added gene: PDSS1 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 33285023 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Review for gene: PDSS1 was set to AMBER