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  2. Deafness_IsolatedAndComplex
  3. PDSS1
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Deafness_IsolatedAndComplex

Gene: PDSS1

Amber List (moderate evidence)
PDSS1 (decaprenyl diphosphate synthase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Created: 1 Feb 2021, 4:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 2, MIM# 614651

Publications

Created: 1 Feb 2021, 4:39 a.m.

Panel version: 1.46

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, MIM# 614651
OMIM
607429
Clinvar variants
Variants in PDSS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDSS1 was added gene: PDSS1 was added to Deafness_IsolatedAndComplex. 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