Optic neuropathy
Gene: PDSS1EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
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.Created: 9 Feb 2021, 11:57 a.m. | Last Modified: 9 Feb 2021, 11:57 a.m.
Panel Version: 2.35
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 2, OMIM:614651
- Tags
- OMIM
- 607429
- Clinvar variants
- Variants in PDSS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Retinal disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Optic neuropathy
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: PDSS1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PDSS1 were set to 33285023
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PDSS1 were changed from Coenzyme Q10 deficiency, primary, 2, MIM# 614651 to Coenzyme Q10 deficiency, primary, 2, OMIM:614651
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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