PDSS1
Basic information
Region (hg38): 10:26697700-26746798
Previous symbols: [ "TPRT" ]
Links
Phenotypes
GenCC
Source:
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome (Strong), mode of inheritance: AR
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome (Moderate), mode of inheritance: AR
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome (Supportive), mode of inheritance: AR
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Coenzyme Q10 deficiency 2 | AR | Biochemical | There can be a wide range of manifestations, and in some individuals, treatment with Coenzyme Q10 supplementation can be beneficial | Audiologic/Otolaryngologic; Biochemical; Cardiovascular; Endocrine; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Renal | 17332895; 22231380 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (242 variants)
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome (61 variants)
- not specified (23 variants)
- Inborn genetic diseases (13 variants)
- Coenzyme Q10 deficiency (3 variants)
- See cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDSS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 44 | 44 | ||||
missense | 83 | 87 | ||||
nonsense | 5 | |||||
start loss | 0 | |||||
frameshift | 7 | |||||
inframe indel | 3 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 10 | 9 | 1 | 21 | |
non coding ? | 31 | 49 | 87 | |||
Total | 2 | 2 | 101 | 77 | 51 |
Highest pathogenic variant AF is 0.0000132
Variants in PDSS1
This is a list of pathogenic ClinVar variants found in the PDSS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-26697729-G-A | Likely pathogenic (Jan 03, 2023) | |||
10-26697745-T-C | Uncertain significance (Sep 13, 2022) | |||
10-26697745-T-G | Inborn genetic diseases | Uncertain significance (Sep 14, 2022) | ||
10-26697746-G-A | Inborn genetic diseases | Uncertain significance (Oct 06, 2022) | ||
10-26697752-G-C | Uncertain significance (Apr 23, 2022) | |||
10-26697753-G-C | Uncertain significance (Jun 02, 2021) | |||
10-26697758-C-T | Uncertain significance (Mar 24, 2022) | |||
10-26697762-G-A | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | Conflicting classifications of pathogenicity (Jul 17, 2023) | ||
10-26697764-C-G | Uncertain significance (Jun 27, 2022) | |||
10-26697767-G-A | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | ||
10-26697771-C-T | Likely benign (Sep 11, 2023) | |||
10-26697780-C-G | Likely benign (Jan 01, 2023) | |||
10-26697780-C-T | Likely benign (Jun 03, 2023) | |||
10-26697781-G-C | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome • Inborn genetic diseases | Uncertain significance (Jul 19, 2022) | ||
10-26697785-C-T | not specified | Conflicting classifications of pathogenicity (Nov 01, 2022) | ||
10-26697788-C-T | Uncertain significance (Nov 01, 2021) | |||
10-26697789-C-A | Likely benign (Nov 07, 2023) | |||
10-26697789-C-G | Likely benign (Feb 20, 2022) | |||
10-26697793-CG-GC | Uncertain significance (May 27, 2022) | |||
10-26697794-G-A | Uncertain significance (Aug 10, 2023) | |||
10-26697794-G-T | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | Uncertain significance (May 24, 2022) | ||
10-26697800-G-C | Uncertain significance (Mar 18, 2022) | |||
10-26697800-G-T | not specified • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | Benign (Jan 30, 2024) | ||
10-26697805-T-A | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | Uncertain significance (Aug 30, 2018) | ||
10-26697805-T-G | Inborn genetic diseases | Uncertain significance (Apr 22, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PDSS1 | protein_coding | protein_coding | ENST00000376215 | 12 | 49140 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.24e-8 | 0.929 | 125704 | 0 | 44 | 125748 | 0.000175 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.32 | 161 | 215 | 0.747 | 0.0000124 | 2674 |
Missense in Polyphen | 50 | 82.51 | 0.60598 | 1024 | ||
Synonymous | 0.766 | 69 | 77.6 | 0.889 | 0.00000476 | 809 |
Loss of Function | 1.85 | 16 | 26.2 | 0.611 | 0.00000177 | 285 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000351 | 0.000351 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.000185 | 0.000185 |
European (Non-Finnish) | 0.000211 | 0.000211 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000653 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. {ECO:0000269|PubMed:16262699}.;
- Disease
- DISEASE: Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]: An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. {ECO:0000269|PubMed:17332895}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Terpenoid backbone biosynthesis - Homo sapiens (human);Metabolism;Ubiquinol biosynthesis;Metabolism of cofactors;Metabolism of vitamins and cofactors;ubiquinol-10 biosynthesis
(Consensus)
Recessive Scores
- pRec
- 0.290
Intolerance Scores
- loftool
- 0.385
- rvis_EVS
- 0.06
- rvis_percentile_EVS
- 58.53
Haploinsufficiency Scores
- pHI
- 0.513
- hipred
- Y
- hipred_score
- 0.527
- ghis
- 0.576
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.136
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pdss1
- Phenotype
Gene ontology
- Biological process
- ubiquinone biosynthetic process;isoprenoid biosynthetic process;protein heterotetramerization
- Cellular component
- mitochondrial matrix;transferase complex
- Molecular function
- trans-hexaprenyltranstransferase activity;metal ion binding;protein heterodimerization activity;trans-octaprenyltranstransferase activity