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Intellectual disability syndromic and non-syndromic

Gene: PDSS2

Red List (low evidence)

PDSS2 (decaprenyl diphosphate synthase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000164494
EnsemblGeneIds (GRCh37): ENSG00000164494
OMIM: 610564, Gene2Phenotype
PDSS2 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

ID has not been reported in any of the reported families thus far
Created: 7 Nov 2024, 5:52 a.m. | Last Modified: 7 Nov 2024, 5:52 a.m.
Panel Version: 0.6638

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 3 MIM#614652

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3 MIM#614652
OMIM
610564
Clinvar variants
Variants in PDSS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Nov 2024, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PDSS2 were changed from Coenzyme Q10 deficiency, primary, 3 MIM#614652 to Coenzyme Q10 deficiency, primary, 3 MIM#614652

7 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pdss2 has been classified as Red List (Low Evidence).

7 Nov 2024, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PDSS2 were changed from Coenzyme Q10 deficiency, primary, 3 MIM#614652 to Coenzyme Q10 deficiency, primary, 3 MIM#614652

7 Nov 2024, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652

7 Nov 2024, Gel status: 1

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PDSS2 were set to

7 Nov 2024, Gel status: 1

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pdss2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDSS2 was added gene: PDSS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDSS2 was set to Unknown