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Intellectual disability syndromic and non-syndromic

Gene: PDSS1

Green List (high evidence)

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

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 4 unrelated patients with CoQ10 deficiency reported in the literature with biallelic variants, all had mild ID or dev delay.
Created: 26 Dec 2020, 11:56 p.m. | Last Modified: 26 Dec 2020, 11:56 p.m.
Panel Version: 0.3338

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 2 MIM#614651

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

27 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdss1 has been classified as Green List (High Evidence).

27 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651

27 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDSS1 were set to

27 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDSS1 was added gene: PDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDSS1 was set to Unknown